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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: 1-200048592-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=200048592&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 200048592,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_205860.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.884C>T",
"hgvs_p": "p.Thr295Met",
"transcript": "NM_205860.3",
"protein_id": "NP_995582.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 541,
"cds_start": 884,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": "ENST00000367362.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_205860.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.884C>T",
"hgvs_p": "p.Thr295Met",
"transcript": "ENST00000367362.8",
"protein_id": "ENSP00000356331.3",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 541,
"cds_start": 884,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": "NM_205860.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367362.8"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Thr249Met",
"transcript": "ENST00000236914.7",
"protein_id": "ENSP00000236914.3",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 495,
"cds_start": 746,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 3115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000236914.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Thr215Met",
"transcript": "ENST00000367357.3",
"protein_id": "ENSP00000356326.3",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 376,
"cds_start": 644,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 1793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367357.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Thr270Met",
"transcript": "ENST00000892175.1",
"protein_id": "ENSP00000562234.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 516,
"cds_start": 809,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 3779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892175.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Thr249Met",
"transcript": "NM_003822.5",
"protein_id": "NP_003813.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 495,
"cds_start": 746,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 4831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003822.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Thr223Met",
"transcript": "NM_001276464.2",
"protein_id": "NP_001263393.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 469,
"cds_start": 668,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 5004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276464.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Thr223Met",
"transcript": "ENST00000544748.5",
"protein_id": "ENSP00000439116.1",
"transcript_support_level": 2,
"aa_start": 223,
"aa_end": null,
"aa_length": 469,
"cds_start": 668,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 4775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544748.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.860C>T",
"hgvs_p": "p.Thr287Met",
"transcript": "XM_047416753.1",
"protein_id": "XP_047272709.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 533,
"cds_start": 860,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 5040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416753.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"transcript": "XM_047416762.1",
"protein_id": "XP_047272718.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 531,
"cds_start": 854,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 2912,
"cdna_end": null,
"cdna_length": 6859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416762.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.764C>T",
"hgvs_p": "p.Thr255Met",
"transcript": "XM_011509381.4",
"protein_id": "XP_011507683.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 501,
"cds_start": 764,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 6515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509381.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.764C>T",
"hgvs_p": "p.Thr255Met",
"transcript": "XM_011509384.3",
"protein_id": "XP_011507686.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 501,
"cds_start": 764,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 4932,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509384.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.764C>T",
"hgvs_p": "p.Thr255Met",
"transcript": "XM_017000904.2",
"protein_id": "XP_016856393.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 501,
"cds_start": 764,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 4963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000904.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Thr223Met",
"transcript": "XM_005245062.4",
"protein_id": "XP_005245119.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 469,
"cds_start": 668,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 5037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245062.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.657+290C>T",
"hgvs_p": null,
"transcript": "ENST00000892176.1",
"protein_id": "ENSP00000562235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892176.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.456+290C>T",
"hgvs_p": null,
"transcript": "ENST00000892174.1",
"protein_id": "ENSP00000562233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892174.1"
}
],
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"dbsnp": "rs139624279",
"frequency_reference_population": 0.00016664829,
"hom_count_reference_population": 0,
"allele_count_reference_population": 269,
"gnomad_exomes_af": 0.000088926,
"gnomad_genomes_af": 0.000912744,
"gnomad_exomes_ac": 130,
"gnomad_genomes_ac": 139,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01384475827217102,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.361,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0831,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.522,
"phylop100way_prediction": "Uncertain_significance",
"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_205860.3",
"gene_symbol": "NR5A2",
"hgnc_id": 7984,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.884C>T",
"hgvs_p": "p.Thr295Met"
}
],
"clinvar_disease": "Anophthalmia-microphthalmia syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Anophthalmia-microphthalmia syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}