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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: 10-116096756-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=116096756&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 116096756,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005264.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.779T>C",
"hgvs_p": "p.Leu260Pro",
"transcript": "NM_005264.8",
"protein_id": "NP_005255.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 465,
"cds_start": 779,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 9161,
"mane_select": "ENST00000355422.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.779T>C",
"hgvs_p": "p.Leu260Pro",
"transcript": "ENST00000355422.11",
"protein_id": "ENSP00000347591.6",
"transcript_support_level": 5,
"aa_start": 260,
"aa_end": null,
"aa_length": 465,
"cds_start": 779,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 9161,
"mane_select": "NM_005264.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Leu255Pro",
"transcript": "ENST00000369236.5",
"protein_id": "ENSP00000358239.1",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 460,
"cds_start": 764,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 9109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.779T>C",
"hgvs_p": "p.Leu260Pro",
"transcript": "NM_001348098.4",
"protein_id": "NP_001335027.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 465,
"cds_start": 779,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 9211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.779T>C",
"hgvs_p": "p.Leu260Pro",
"transcript": "ENST00000369234.5",
"protein_id": "ENSP00000358237.4",
"transcript_support_level": 5,
"aa_start": 260,
"aa_end": null,
"aa_length": 465,
"cds_start": 779,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Leu255Pro",
"transcript": "NM_001145453.4",
"protein_id": "NP_001138925.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 460,
"cds_start": 764,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 9555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Leu255Pro",
"transcript": "NM_001348096.3",
"protein_id": "NP_001335025.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 460,
"cds_start": 764,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 9244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Leu255Pro",
"transcript": "NM_001382556.2",
"protein_id": "NP_001369485.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 460,
"cds_start": 764,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 9263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Leu255Pro",
"transcript": "NM_001382557.2",
"protein_id": "NP_001369486.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 460,
"cds_start": 764,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 9141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Leu255Pro",
"transcript": "NM_001382558.2",
"protein_id": "NP_001369487.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 460,
"cds_start": 764,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 9196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Leu255Pro",
"transcript": "NM_001382559.2",
"protein_id": "NP_001369488.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 460,
"cds_start": 764,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 9175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Leu255Pro",
"transcript": "NM_145793.7",
"protein_id": "NP_665736.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 460,
"cds_start": 764,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 9052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Leu255Pro",
"transcript": "ENST00000439649.8",
"protein_id": "ENSP00000393725.3",
"transcript_support_level": 2,
"aa_start": 255,
"aa_end": null,
"aa_length": 460,
"cds_start": 764,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 4887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Leu255Pro",
"transcript": "ENST00000682743.1",
"protein_id": "ENSP00000507970.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 460,
"cds_start": 764,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Leu255Pro",
"transcript": "ENST00000684105.1",
"protein_id": "ENSP00000506818.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 460,
"cds_start": 764,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Leu255Pro",
"transcript": "NM_001382560.2",
"protein_id": "NP_001369489.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 459,
"cds_start": 764,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.779T>C",
"hgvs_p": "p.Leu260Pro",
"transcript": "ENST00000682489.1",
"protein_id": "ENSP00000508164.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 445,
"cds_start": 779,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Leu255Pro",
"transcript": "NM_001382561.2",
"protein_id": "NP_001369490.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 425,
"cds_start": 764,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.416T>C",
"hgvs_p": "p.Leu139Pro",
"transcript": "NM_001348099.3",
"protein_id": "NP_001335028.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 344,
"cds_start": 416,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 8600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "n.508T>C",
"hgvs_p": null,
"transcript": "ENST00000682724.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"dbsnp": "rs863223332",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9612822532653809,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.834,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.866,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005264.8",
"gene_symbol": "GFRA1",
"hgnc_id": 4243,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.779T>C",
"hgvs_p": "p.Leu260Pro"
}
],
"clinvar_disease": " 1, susceptibility to,Hirschsprung disease",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hirschsprung disease, susceptibility to, 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}