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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: 2-75646883-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=75646883&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 75646883,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014763.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL19",
"gene_hgnc_id": 14052,
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"transcript": "NM_014763.4",
"protein_id": "NP_055578.2",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 292,
"cds_start": 76,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393909.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014763.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL19",
"gene_hgnc_id": 14052,
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"transcript": "ENST00000393909.7",
"protein_id": "ENSP00000377486.2",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 292,
"cds_start": 76,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014763.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393909.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL19",
"gene_hgnc_id": 14052,
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"transcript": "ENST00000409374.5",
"protein_id": "ENSP00000387284.1",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 292,
"cds_start": 76,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409374.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL19",
"gene_hgnc_id": 14052,
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"transcript": "ENST00000884931.1",
"protein_id": "ENSP00000554990.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 292,
"cds_start": 76,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884931.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL19",
"gene_hgnc_id": 14052,
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"transcript": "ENST00000930104.1",
"protein_id": "ENSP00000600163.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 292,
"cds_start": 76,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930104.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL19",
"gene_hgnc_id": 14052,
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"transcript": "ENST00000930105.1",
"protein_id": "ENSP00000600164.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 284,
"cds_start": 76,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930105.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL19",
"gene_hgnc_id": 14052,
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val",
"transcript": "ENST00000358788.10",
"protein_id": "ENSP00000351639.7",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 173,
"cds_start": 76,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358788.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL19",
"gene_hgnc_id": 14052,
"hgvs_c": "n.101C>G",
"hgvs_p": null,
"transcript": "ENST00000493686.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000493686.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL19",
"gene_hgnc_id": 14052,
"hgvs_c": "c.-410C>G",
"hgvs_p": null,
"transcript": "ENST00000476622.1",
"protein_id": "ENSP00000474821.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476622.1"
}
],
"gene_symbol": "MRPL19",
"gene_hgnc_id": 14052,
"dbsnp": "rs942435161",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06785205006599426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.0742,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.177,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_014763.4",
"gene_symbol": "MRPL19",
"hgnc_id": 14052,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Leu26Val"
}
],
"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
}