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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: 6-41770812-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=41770812&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 41770812,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006653.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS3",
"gene_hgnc_id": 16970,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_006653.5",
"protein_id": "NP_006644.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 492,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373018.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006653.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS3",
"gene_hgnc_id": 16970,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000373018.7",
"protein_id": "ENSP00000362109.3",
"transcript_support_level": 3,
"aa_start": 429,
"aa_end": null,
"aa_length": 492,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006653.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373018.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS3",
"gene_hgnc_id": 16970,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000259748.6",
"protein_id": "ENSP00000259748.2",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 492,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259748.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS3",
"gene_hgnc_id": 16970,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000930712.1",
"protein_id": "ENSP00000600771.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 492,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930712.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS3",
"gene_hgnc_id": 16970,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000930714.1",
"protein_id": "ENSP00000600773.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 492,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930714.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS3",
"gene_hgnc_id": 16970,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000930715.1",
"protein_id": "ENSP00000600774.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 492,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930715.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS3",
"gene_hgnc_id": 16970,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000957913.1",
"protein_id": "ENSP00000627972.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 492,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957913.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS3",
"gene_hgnc_id": 16970,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000957914.1",
"protein_id": "ENSP00000627973.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 492,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957914.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS3",
"gene_hgnc_id": 16970,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000957915.1",
"protein_id": "ENSP00000627974.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 492,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957915.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS3",
"gene_hgnc_id": 16970,
"hgvs_c": "c.1184G>A",
"hgvs_p": "p.Arg395His",
"transcript": "ENST00000930713.1",
"protein_id": "ENSP00000600772.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 458,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930713.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS3",
"gene_hgnc_id": 16970,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "XM_011514254.2",
"protein_id": "XP_011512556.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 492,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514254.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS3",
"gene_hgnc_id": 16970,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "XM_047418097.1",
"protein_id": "XP_047274053.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 492,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418097.1"
}
],
"gene_symbol": "FRS3",
"gene_hgnc_id": 16970,
"dbsnp": "rs767384110",
"frequency_reference_population": 0.000011796172,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000123409,
"gnomad_genomes_af": 0.00000657358,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.027635246515274048,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.15,
"revel_prediction": "Benign",
"alphamissense_score": 0.0627,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.946,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006653.5",
"gene_symbol": "FRS3",
"hgnc_id": 16970,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}