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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: 2-240568906-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240568906&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 240568906,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018226.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEPL1",
"gene_hgnc_id": 10079,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ser107Cys",
"transcript": "NM_018226.6",
"protein_id": "NP_060696.4",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 725,
"cds_start": 320,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000270357.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018226.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEPL1",
"gene_hgnc_id": 10079,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ser107Cys",
"transcript": "ENST00000270357.10",
"protein_id": "ENSP00000270357.4",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 725,
"cds_start": 320,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018226.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270357.10"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEPL1",
"gene_hgnc_id": 10079,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ser107Cys",
"transcript": "ENST00000971323.1",
"protein_id": "ENSP00000641382.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 733,
"cds_start": 320,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971323.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEPL1",
"gene_hgnc_id": 10079,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ser107Cys",
"transcript": "ENST00000971322.1",
"protein_id": "ENSP00000641381.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 724,
"cds_start": 320,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971322.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEPL1",
"gene_hgnc_id": 10079,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ser107Cys",
"transcript": "ENST00000885947.1",
"protein_id": "ENSP00000556006.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 719,
"cds_start": 320,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885947.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEPL1",
"gene_hgnc_id": 10079,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ser107Cys",
"transcript": "ENST00000885948.1",
"protein_id": "ENSP00000556007.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 713,
"cds_start": 320,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885948.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEPL1",
"gene_hgnc_id": 10079,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ser107Cys",
"transcript": "ENST00000885945.1",
"protein_id": "ENSP00000556004.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 705,
"cds_start": 320,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885945.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEPL1",
"gene_hgnc_id": 10079,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ser107Cys",
"transcript": "ENST00000920409.1",
"protein_id": "ENSP00000590468.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 694,
"cds_start": 320,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920409.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEPL1",
"gene_hgnc_id": 10079,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ser107Cys",
"transcript": "ENST00000885946.1",
"protein_id": "ENSP00000556005.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 686,
"cds_start": 320,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885946.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEPL1",
"gene_hgnc_id": 10079,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ser107Cys",
"transcript": "ENST00000885949.1",
"protein_id": "ENSP00000556008.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 678,
"cds_start": 320,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885949.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEPL1",
"gene_hgnc_id": 10079,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ser107Cys",
"transcript": "ENST00000920410.1",
"protein_id": "ENSP00000590469.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 666,
"cds_start": 320,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920410.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.-122+130G>C",
"hgvs_p": null,
"transcript": "ENST00000418708.3",
"protein_id": "ENSP00000407015.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418708.3"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNPEPL1",
"gene_hgnc_id": 10079,
"hgvs_c": "c.-57+2965C>G",
"hgvs_p": null,
"transcript": "ENST00000451363.5",
"protein_id": "ENSP00000414661.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451363.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEPL1",
"gene_hgnc_id": 10079,
"hgvs_c": "n.46C>G",
"hgvs_p": null,
"transcript": "ENST00000486058.5",
"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": "ENST00000486058.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "n.174+130G>C",
"hgvs_p": null,
"transcript": "ENST00000418505.3",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000418505.3"
}
],
"gene_symbol": "RNPEPL1",
"gene_hgnc_id": 10079,
"dbsnp": "rs946218997",
"frequency_reference_population": 0.0000031287889,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000265783,
"gnomad_genomes_af": 0.00000667958,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23246324062347412,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.0958,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.701,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018226.6",
"gene_symbol": "RNPEPL1",
"hgnc_id": 10079,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ser107Cys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000418708.3",
"gene_symbol": "ANKMY1",
"hgnc_id": 20987,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-122+130G>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
}