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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: 5-34998807-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=34998807&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 34998807,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_031900.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Ser486Leu",
"transcript": "NM_031900.4",
"protein_id": "NP_114106.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 514,
"cds_start": 1457,
"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": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Ser486Leu",
"transcript": "ENST00000231420.11",
"protein_id": "ENSP00000231420.6",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 514,
"cds_start": 1457,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1232C>T",
"hgvs_p": "p.Ser411Leu",
"transcript": "ENST00000510428.1",
"protein_id": "ENSP00000422799.1",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 439,
"cds_start": 1232,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Ser513Leu",
"transcript": "ENST00000853198.1",
"protein_id": "ENSP00000523257.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 541,
"cds_start": 1538,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1535C>T",
"hgvs_p": "p.Ser512Leu",
"transcript": "ENST00000853200.1",
"protein_id": "ENSP00000523259.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 540,
"cds_start": 1535,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1517C>T",
"hgvs_p": "p.Ser506Leu",
"transcript": "ENST00000853201.1",
"protein_id": "ENSP00000523260.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 534,
"cds_start": 1517,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1454C>T",
"hgvs_p": "p.Ser485Leu",
"transcript": "NM_001438583.1",
"protein_id": "NP_001425512.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 513,
"cds_start": 1454,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1454C>T",
"hgvs_p": "p.Ser485Leu",
"transcript": "ENST00000853195.1",
"protein_id": "ENSP00000523254.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 513,
"cds_start": 1454,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Ser436Leu",
"transcript": "ENST00000853199.1",
"protein_id": "ENSP00000523258.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 464,
"cds_start": 1307,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1262C>T",
"hgvs_p": "p.Ser421Leu",
"transcript": "NM_001438584.1",
"protein_id": "NP_001425513.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 449,
"cds_start": 1262,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1262C>T",
"hgvs_p": "p.Ser421Leu",
"transcript": "ENST00000853196.1",
"protein_id": "ENSP00000523255.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 449,
"cds_start": 1262,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Ser420Leu",
"transcript": "ENST00000853197.1",
"protein_id": "ENSP00000523256.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 448,
"cds_start": 1259,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1232C>T",
"hgvs_p": "p.Ser411Leu",
"transcript": "NM_001306173.2",
"protein_id": "NP_001293102.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 439,
"cds_start": 1232,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1232C>T",
"hgvs_p": "p.Ser411Leu",
"transcript": "NM_001438050.1",
"protein_id": "NP_001424979.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 439,
"cds_start": 1232,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1232C>T",
"hgvs_p": "p.Ser411Leu",
"transcript": "ENST00000618015.4",
"protein_id": "ENSP00000479154.1",
"transcript_support_level": 5,
"aa_start": 411,
"aa_end": null,
"aa_length": 439,
"cds_start": 1232,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Ser394Leu",
"transcript": "NM_001438585.1",
"protein_id": "NP_001425514.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 422,
"cds_start": 1181,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Ser383Leu",
"transcript": "ENST00000946517.1",
"protein_id": "ENSP00000616576.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 411,
"cds_start": 1148,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "c.1082C>T",
"hgvs_p": "p.Ser361Leu",
"transcript": "ENST00000853202.1",
"protein_id": "ENSP00000523261.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 389,
"cds_start": 1082,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT2",
"gene_hgnc_id": 14412,
"hgvs_c": "n.1127C>T",
"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": "rs529653742",
"frequency_reference_population": 0.000022309643,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000082116,
"gnomad_genomes_af": 0.00015758,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 24,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26019275188446045,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.216,
"revel_prediction": "Benign",
"alphamissense_score": 0.2568,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.713,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_031900.4",
"gene_symbol": "AGXT2",
"hgnc_id": 14412,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Ser486Leu"
}
],
"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
}