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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: 19-17306261-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17306261&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 17306261,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000252602.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "MRPL34",
"gene_hgnc_id": 14488,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Gln54Arg",
"transcript": "NM_023937.4",
"protein_id": "NP_076426.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 92,
"cds_start": 161,
"cds_end": null,
"cds_length": 279,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 764,
"mane_select": "ENST00000252602.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"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": "MRPL34",
"gene_hgnc_id": 14488,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Gln54Arg",
"transcript": "ENST00000252602.2",
"protein_id": "ENSP00000252602.1",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 92,
"cds_start": 161,
"cds_end": null,
"cds_length": 279,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 764,
"mane_select": "NM_023937.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "MRPL34",
"gene_hgnc_id": 14488,
"hgvs_c": "c.437A>G",
"hgvs_p": "p.Gln146Arg",
"transcript": "ENST00000595444.1",
"protein_id": "ENSP00000472266.1",
"transcript_support_level": 3,
"aa_start": 146,
"aa_end": null,
"aa_length": 184,
"cds_start": 437,
"cds_end": null,
"cds_length": 555,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "MRPL34",
"gene_hgnc_id": 14488,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Gln54Arg",
"transcript": "NM_001382342.1",
"protein_id": "NP_001369271.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 92,
"cds_start": 161,
"cds_end": null,
"cds_length": 279,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "MRPL34",
"gene_hgnc_id": 14488,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Gln54Arg",
"transcript": "NM_001382343.1",
"protein_id": "NP_001369272.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 92,
"cds_start": 161,
"cds_end": null,
"cds_length": 279,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "MRPL34",
"gene_hgnc_id": 14488,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Gln54Arg",
"transcript": "NM_001400072.1",
"protein_id": "NP_001387001.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 92,
"cds_start": 161,
"cds_end": null,
"cds_length": 279,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 1087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL34",
"gene_hgnc_id": 14488,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Gln54Arg",
"transcript": "NM_001400073.1",
"protein_id": "NP_001387002.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 92,
"cds_start": 161,
"cds_end": null,
"cds_length": 279,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "MRPL34",
"gene_hgnc_id": 14488,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Gln54Arg",
"transcript": "ENST00000594999.1",
"protein_id": "ENSP00000471820.1",
"transcript_support_level": 2,
"aa_start": 54,
"aa_end": null,
"aa_length": 92,
"cds_start": 161,
"cds_end": null,
"cds_length": 279,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL34",
"gene_hgnc_id": 14488,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Gln54Arg",
"transcript": "ENST00000600434.5",
"protein_id": "ENSP00000469581.1",
"transcript_support_level": 3,
"aa_start": 54,
"aa_end": null,
"aa_length": 92,
"cds_start": 161,
"cds_end": null,
"cds_length": 279,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"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": "MRPL34",
"gene_hgnc_id": 14488,
"hgvs_c": "c.61A>G",
"hgvs_p": "p.Ser21Gly",
"transcript": "NM_001400074.1",
"protein_id": "NP_001387003.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 36,
"cds_start": 61,
"cds_end": null,
"cds_length": 111,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"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": "MRPL34",
"gene_hgnc_id": 14488,
"hgvs_c": "c.61A>G",
"hgvs_p": "p.Ser21Gly",
"transcript": "ENST00000602206.1",
"protein_id": "ENSP00000471089.1",
"transcript_support_level": 3,
"aa_start": 21,
"aa_end": null,
"aa_length": 36,
"cds_start": 61,
"cds_end": null,
"cds_length": 111,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABHD8",
"gene_hgnc_id": 23759,
"hgvs_c": "c.40+3906T>C",
"hgvs_p": null,
"transcript": "ENST00000593489.1",
"protein_id": "ENSP00000468883.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MRPL34",
"gene_hgnc_id": 14488,
"dbsnp": "rs372170364",
"frequency_reference_population": 0.0000056203494,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000345029,
"gnomad_genomes_af": 0.000026286,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36501869559288025,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.514,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7535,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.434,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000252602.2",
"gene_symbol": "MRPL34",
"hgnc_id": 14488,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Gln54Arg"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000593489.1",
"gene_symbol": "ABHD8",
"hgnc_id": 23759,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.40+3906T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}