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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: 8-126556521-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=126556521&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 126556521,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_174911.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRATD2",
"gene_hgnc_id": 24166,
"hgvs_c": "c.869C>G",
"hgvs_p": "p.Pro290Arg",
"transcript": "NM_174911.5",
"protein_id": "NP_777571.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 310,
"cds_start": 869,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304916.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174911.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRATD2",
"gene_hgnc_id": 24166,
"hgvs_c": "c.869C>G",
"hgvs_p": "p.Pro290Arg",
"transcript": "ENST00000304916.4",
"protein_id": "ENSP00000302578.3",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 310,
"cds_start": 869,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_174911.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304916.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRATD2",
"gene_hgnc_id": 24166,
"hgvs_c": "c.869C>G",
"hgvs_p": "p.Pro290Arg",
"transcript": "ENST00000652209.1",
"protein_id": "ENSP00000498944.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 310,
"cds_start": 869,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652209.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRATD2",
"gene_hgnc_id": 24166,
"hgvs_c": "c.869C>G",
"hgvs_p": "p.Pro290Arg",
"transcript": "ENST00000853985.1",
"protein_id": "ENSP00000524044.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 310,
"cds_start": 869,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853985.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRATD2",
"gene_hgnc_id": 24166,
"hgvs_c": "c.869C>G",
"hgvs_p": "p.Pro290Arg",
"transcript": "ENST00000853987.1",
"protein_id": "ENSP00000524045.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 310,
"cds_start": 869,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853987.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRATD2",
"gene_hgnc_id": 24166,
"hgvs_c": "c.869C>G",
"hgvs_p": "p.Pro290Arg",
"transcript": "ENST00000853988.1",
"protein_id": "ENSP00000524047.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 310,
"cds_start": 869,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853988.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRATD2",
"gene_hgnc_id": 24166,
"hgvs_c": "c.869C>G",
"hgvs_p": "p.Pro290Arg",
"transcript": "ENST00000920140.1",
"protein_id": "ENSP00000590199.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 310,
"cds_start": 869,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920140.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRATD2",
"gene_hgnc_id": 24166,
"hgvs_c": "c.869C>G",
"hgvs_p": "p.Pro290Arg",
"transcript": "ENST00000920141.1",
"protein_id": "ENSP00000590200.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 310,
"cds_start": 869,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920141.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRATD2",
"gene_hgnc_id": 24166,
"hgvs_c": "c.869C>G",
"hgvs_p": "p.Pro290Arg",
"transcript": "ENST00000920142.1",
"protein_id": "ENSP00000590201.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 310,
"cds_start": 869,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920142.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRATD2",
"gene_hgnc_id": 24166,
"hgvs_c": "c.869C>G",
"hgvs_p": "p.Pro290Arg",
"transcript": "ENST00000920143.1",
"protein_id": "ENSP00000590202.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 310,
"cds_start": 869,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920143.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRATD2",
"gene_hgnc_id": 24166,
"hgvs_c": "c.869C>G",
"hgvs_p": "p.Pro290Arg",
"transcript": "XM_017013107.3",
"protein_id": "XP_016868596.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 310,
"cds_start": 869,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013107.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRATD2",
"gene_hgnc_id": 24166,
"hgvs_c": "c.815C>G",
"hgvs_p": "p.Pro272Arg",
"transcript": "XM_017013108.3",
"protein_id": "XP_016868597.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 292,
"cds_start": 815,
"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": "XM_017013108.3"
},
{
"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": "PCAT1",
"gene_hgnc_id": 43022,
"hgvs_c": "n.199G>C",
"hgvs_p": null,
"transcript": "ENST00000524320.2",
"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": "pseudogene",
"feature": "ENST00000524320.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRATD2",
"gene_hgnc_id": 24166,
"hgvs_c": "n.1410C>G",
"hgvs_p": null,
"transcript": "NR_156466.2",
"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": "NR_156466.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "LRATD2",
"gene_hgnc_id": 24166,
"hgvs_c": "n.1958C>G",
"hgvs_p": null,
"transcript": "XR_007060704.1",
"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": "XR_007060704.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRATD2",
"gene_hgnc_id": 24166,
"hgvs_c": "n.1424C>G",
"hgvs_p": null,
"transcript": "XR_007060705.1",
"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": "XR_007060705.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRATD2",
"gene_hgnc_id": 24166,
"hgvs_c": "n.-102C>G",
"hgvs_p": null,
"transcript": "ENST00000517458.1",
"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": "pseudogene",
"feature": "ENST00000517458.1"
}
],
"gene_symbol": "LRATD2",
"gene_hgnc_id": 24166,
"dbsnp": "rs560326320",
"frequency_reference_population": 0.0000013845257,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138453,
"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": 0.15992027521133423,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.0767,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.461,
"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_174911.5",
"gene_symbol": "LRATD2",
"hgnc_id": 24166,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.869C>G",
"hgvs_p": "p.Pro290Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000524320.2",
"gene_symbol": "PCAT1",
"hgnc_id": 43022,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.199G>C",
"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
}