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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: 9-124538198-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=124538198&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NR6A1",
"hgnc_id": 7985,
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Pro240Ser",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_033334.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": 0.09,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.186370849609375,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 480,
"aa_ref": "P",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7065,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1443,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_033334.4",
"gene_hgnc_id": 7985,
"gene_symbol": "NR6A1",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Pro240Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000487099.7",
"protein_coding": true,
"protein_id": "NP_201591.2",
"strand": false,
"transcript": "NM_033334.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 480,
"aa_ref": "P",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7065,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1443,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000487099.7",
"gene_hgnc_id": 7985,
"gene_symbol": "NR6A1",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Pro240Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033334.4",
"protein_coding": true,
"protein_id": "ENSP00000420267.1",
"strand": false,
"transcript": "ENST00000487099.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 476,
"aa_ref": "P",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 884,
"cds_end": null,
"cds_length": 1431,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000373584.7",
"gene_hgnc_id": 7985,
"gene_symbol": "NR6A1",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Pro236Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362686.3",
"strand": false,
"transcript": "ENST00000373584.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1898,
"cdna_start": 894,
"cds_end": null,
"cds_length": 1428,
"cds_start": 703,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000416460.6",
"gene_hgnc_id": 7985,
"gene_symbol": "NR6A1",
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Pro235Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413701.2",
"strand": false,
"transcript": "ENST00000416460.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 495,
"aa_ref": "P",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1488,
"cds_start": 763,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000880987.1",
"gene_hgnc_id": 7985,
"gene_symbol": "NR6A1",
"hgvs_c": "c.763C>T",
"hgvs_p": "p.Pro255Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551046.1",
"strand": false,
"transcript": "ENST00000880987.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 479,
"aa_ref": "P",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7062,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1440,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001410996.1",
"gene_hgnc_id": 7985,
"gene_symbol": "NR6A1",
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Pro239Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397925.1",
"strand": false,
"transcript": "NM_001410996.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 479,
"aa_ref": "P",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1846,
"cdna_start": 883,
"cds_end": null,
"cds_length": 1440,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000344523.8",
"gene_hgnc_id": 7985,
"gene_symbol": "NR6A1",
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Pro239Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341135.4",
"strand": false,
"transcript": "ENST00000344523.8",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 476,
"aa_ref": "P",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7053,
"cdna_start": 898,
"cds_end": null,
"cds_length": 1431,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001278546.2",
"gene_hgnc_id": 7985,
"gene_symbol": "NR6A1",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Pro236Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265475.1",
"strand": false,
"transcript": "NM_001278546.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7050,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1428,
"cds_start": 703,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001489.5",
"gene_hgnc_id": 7985,
"gene_symbol": "NR6A1",
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Pro235Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001480.3",
"strand": false,
"transcript": "NM_001489.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 395,
"aa_ref": "P",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6784,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1188,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000924541.1",
"gene_hgnc_id": 7985,
"gene_symbol": "NR6A1",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Pro240Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594600.1",
"strand": false,
"transcript": "ENST00000924541.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 231,
"aa_ref": "P",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 742,
"cdna_start": 636,
"cds_end": null,
"cds_length": 698,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000475178.1",
"gene_hgnc_id": 7985,
"gene_symbol": "NR6A1",
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Pro198Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420587.1",
"strand": false,
"transcript": "ENST00000475178.1",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 438,
"aa_ref": "P",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6858,
"cdna_start": 703,
"cds_end": null,
"cds_length": 1317,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005251918.6",
"gene_hgnc_id": 7985,
"gene_symbol": "NR6A1",
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Pro198Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251975.1",
"strand": false,
"transcript": "XM_005251918.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "P",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6855,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1314,
"cds_start": 589,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047423226.1",
"gene_hgnc_id": 7985,
"gene_symbol": "NR6A1",
"hgvs_c": "c.589C>T",
"hgvs_p": "p.Pro197Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279182.1",
"strand": false,
"transcript": "XM_047423226.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1461631513",
"effect": "missense_variant",
"frequency_reference_population": 0.0000074345203,
"gene_hgnc_id": 7985,
"gene_symbol": "NR6A1",
"gnomad_exomes_ac": 10,
"gnomad_exomes_af": 0.00000684049,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131399,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.516,
"pos": 124538198,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.317,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05999999865889549,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.06,
"transcript": "NM_033334.4"
}
]
}