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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: 5-35010005-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=35010005&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 35010005,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_031900.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1333G>A",
"hgvs_p": "p.Asp445Asn",
"transcript": "NM_031900.4",
"protein_id": "NP_114106.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 514,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000231420.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031900.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1333G>A",
"hgvs_p": "p.Asp445Asn",
"transcript": "ENST00000231420.11",
"protein_id": "ENSP00000231420.6",
"transcript_support_level": 1,
"aa_start": 445,
"aa_end": null,
"aa_length": 514,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031900.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000231420.11"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Asp370Asn",
"transcript": "ENST00000510428.1",
"protein_id": "ENSP00000422799.1",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 439,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510428.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1414G>A",
"hgvs_p": "p.Asp472Asn",
"transcript": "ENST00000853198.1",
"protein_id": "ENSP00000523257.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 541,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853198.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Asp471Asn",
"transcript": "ENST00000853200.1",
"protein_id": "ENSP00000523259.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 540,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853200.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Asp465Asn",
"transcript": "ENST00000853201.1",
"protein_id": "ENSP00000523260.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 534,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853201.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Asp444Asn",
"transcript": "NM_001438583.1",
"protein_id": "NP_001425512.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 513,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438583.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Asp444Asn",
"transcript": "ENST00000853195.1",
"protein_id": "ENSP00000523254.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 513,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853195.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Asp380Asn",
"transcript": "NM_001438584.1",
"protein_id": "NP_001425513.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 449,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438584.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Asp380Asn",
"transcript": "ENST00000853196.1",
"protein_id": "ENSP00000523255.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 449,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853196.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Asp379Asn",
"transcript": "ENST00000853197.1",
"protein_id": "ENSP00000523256.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 448,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853197.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Asp370Asn",
"transcript": "NM_001306173.2",
"protein_id": "NP_001293102.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 439,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306173.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Asp370Asn",
"transcript": "NM_001438050.1",
"protein_id": "NP_001424979.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 439,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438050.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Asp370Asn",
"transcript": "ENST00000618015.4",
"protein_id": "ENSP00000479154.1",
"transcript_support_level": 5,
"aa_start": 370,
"aa_end": null,
"aa_length": 439,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618015.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Asp353Asn",
"transcript": "NM_001438585.1",
"protein_id": "NP_001425514.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 422,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438585.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Asp342Asn",
"transcript": "ENST00000946517.1",
"protein_id": "ENSP00000616576.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 411,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946517.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1188+2949G>A",
"hgvs_p": null,
"transcript": "ENST00000853199.1",
"protein_id": "ENSP00000523258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853199.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.964-6144G>A",
"hgvs_p": null,
"transcript": "ENST00000853202.1",
"protein_id": "ENSP00000523261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": null,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853202.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "n.1003G>A",
"hgvs_p": null,
"transcript": "ENST00000512135.5",
"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": "retained_intron",
"feature": "ENST00000512135.5"
}
],
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"dbsnp": "rs752126134",
"frequency_reference_population": 0.00000478842,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478842,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3255593776702881,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.199,
"revel_prediction": "Benign",
"alphamissense_score": 0.1096,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.602,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031900.4",
"gene_symbol": "AGXT2",
"hgnc_id": 14412,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1333G>A",
"hgvs_p": "p.Asp445Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}