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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: 9-36110066-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=36110066&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 36110066,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_021111.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECK",
"gene_hgnc_id": 11345,
"hgvs_c": "c.1875T>G",
"hgvs_p": "p.Arg625Arg",
"transcript": "NM_021111.3",
"protein_id": "NP_066934.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 971,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377966.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021111.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECK",
"gene_hgnc_id": 11345,
"hgvs_c": "c.1875T>G",
"hgvs_p": "p.Arg625Arg",
"transcript": "ENST00000377966.4",
"protein_id": "ENSP00000367202.3",
"transcript_support_level": 1,
"aa_start": 625,
"aa_end": null,
"aa_length": 971,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021111.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377966.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECK",
"gene_hgnc_id": 11345,
"hgvs_c": "c.1803T>G",
"hgvs_p": "p.Arg601Arg",
"transcript": "ENST00000905834.1",
"protein_id": "ENSP00000575893.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 947,
"cds_start": 1803,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905834.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECK",
"gene_hgnc_id": 11345,
"hgvs_c": "c.1803T>G",
"hgvs_p": "p.Arg601Arg",
"transcript": "ENST00000943609.1",
"protein_id": "ENSP00000613668.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 947,
"cds_start": 1803,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943609.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECK",
"gene_hgnc_id": 11345,
"hgvs_c": "c.1752T>G",
"hgvs_p": "p.Arg584Arg",
"transcript": "ENST00000905832.1",
"protein_id": "ENSP00000575891.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 930,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905832.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECK",
"gene_hgnc_id": 11345,
"hgvs_c": "c.1704T>G",
"hgvs_p": "p.Arg568Arg",
"transcript": "ENST00000905833.1",
"protein_id": "ENSP00000575892.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 914,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905833.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECK",
"gene_hgnc_id": 11345,
"hgvs_c": "c.1677T>G",
"hgvs_p": "p.Arg559Arg",
"transcript": "ENST00000929594.1",
"protein_id": "ENSP00000599653.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 905,
"cds_start": 1677,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929594.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECK",
"gene_hgnc_id": 11345,
"hgvs_c": "c.1662T>G",
"hgvs_p": "p.Arg554Arg",
"transcript": "ENST00000929595.1",
"protein_id": "ENSP00000599654.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 900,
"cds_start": 1662,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929595.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECK",
"gene_hgnc_id": 11345,
"hgvs_c": "c.1629T>G",
"hgvs_p": "p.Arg543Arg",
"transcript": "ENST00000943608.1",
"protein_id": "ENSP00000613667.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 889,
"cds_start": 1629,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943608.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECK",
"gene_hgnc_id": 11345,
"hgvs_c": "c.1491T>G",
"hgvs_p": "p.Arg497Arg",
"transcript": "NM_001316345.2",
"protein_id": "NP_001303274.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 843,
"cds_start": 1491,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316345.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECK",
"gene_hgnc_id": 11345,
"hgvs_c": "c.1764T>G",
"hgvs_p": "p.Arg588Arg",
"transcript": "XM_017015207.2",
"protein_id": "XP_016870696.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 934,
"cds_start": 1764,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015207.2"
}
],
"gene_symbol": "RECK",
"gene_hgnc_id": 11345,
"dbsnp": "rs10972727",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.47999998927116394,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.918,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_021111.3",
"gene_symbol": "RECK",
"hgnc_id": 11345,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1875T>G",
"hgvs_p": "p.Arg625Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}