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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: 22-29313450-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29313450&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RASL10A",
"hgnc_id": 16954,
"hgvs_c": "c.463G>C",
"hgvs_p": "p.Gly155Arg",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_006477.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000301612",
"hgnc_id": null,
"hgvs_c": "n.117+2415G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000780180.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 29,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.6827,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.24,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6276912093162537,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 203,
"aa_ref": "G",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1431,
"cdna_start": 914,
"cds_end": null,
"cds_length": 612,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_006477.5",
"gene_hgnc_id": 16954,
"gene_symbol": "RASL10A",
"hgvs_c": "c.463G>C",
"hgvs_p": "p.Gly155Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216101.7",
"protein_coding": true,
"protein_id": "NP_006468.1",
"strand": false,
"transcript": "NM_006477.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 203,
"aa_ref": "G",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1431,
"cdna_start": 914,
"cds_end": null,
"cds_length": 612,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000216101.7",
"gene_hgnc_id": 16954,
"gene_symbol": "RASL10A",
"hgvs_c": "c.463G>C",
"hgvs_p": "p.Gly155Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006477.5",
"protein_coding": true,
"protein_id": "ENSP00000216101.6",
"strand": false,
"transcript": "ENST00000216101.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 202,
"aa_ref": "G",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": 911,
"cds_end": null,
"cds_length": 609,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000942940.1",
"gene_hgnc_id": 16954,
"gene_symbol": "RASL10A",
"hgvs_c": "c.460G>C",
"hgvs_p": "p.Gly154Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612999.1",
"strand": false,
"transcript": "ENST00000942940.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 192,
"aa_ref": "G",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1213,
"cdna_start": 699,
"cds_end": null,
"cds_length": 579,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000942941.1",
"gene_hgnc_id": 16954,
"gene_symbol": "RASL10A",
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Gly144Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613000.1",
"strand": false,
"transcript": "ENST00000942941.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 223,
"aa_ref": "G",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1964,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 672,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011529822.1",
"gene_hgnc_id": 16954,
"gene_symbol": "RASL10A",
"hgvs_c": "c.523G>C",
"hgvs_p": "p.Gly175Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528124.1",
"strand": false,
"transcript": "XM_011529822.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 155,
"aa_ref": "G",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1312,
"cdna_start": 795,
"cds_end": null,
"cds_length": 468,
"cds_start": 319,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011529823.2",
"gene_hgnc_id": 16954,
"gene_symbol": "RASL10A",
"hgvs_c": "c.319G>C",
"hgvs_p": "p.Gly107Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528125.1",
"strand": false,
"transcript": "XM_011529823.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 115,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": null,
"cds_end": null,
"cds_length": 348,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000401450.3",
"gene_hgnc_id": 16954,
"gene_symbol": "RASL10A",
"hgvs_c": "c.*409G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386095.3",
"strand": false,
"transcript": "ENST00000401450.3",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 705,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000780180.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000301612",
"hgvs_c": "n.117+2415G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000780180.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 538,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000474590.1",
"gene_hgnc_id": 16954,
"gene_symbol": "RASL10A",
"hgvs_c": "n.*85G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000474590.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 562,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000608559.1",
"gene_hgnc_id": 16954,
"gene_symbol": "RASL10A",
"hgvs_c": "n.*53G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000608559.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1420558322",
"effect": "missense_variant",
"frequency_reference_population": 0.00002086505,
"gene_hgnc_id": 16954,
"gene_symbol": "RASL10A",
"gnomad_exomes_ac": 29,
"gnomad_exomes_af": 0.0000208651,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.752,
"pos": 29313450,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.696,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006477.5"
}
]
}