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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: 17-82403992-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82403992&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82403992,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_175902.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "c.644A>G",
"hgvs_p": "p.Asn215Ser",
"transcript": "NM_024648.3",
"protein_id": "NP_078924.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 319,
"cds_start": 644,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313056.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024648.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "c.644A>G",
"hgvs_p": "p.Asn215Ser",
"transcript": "ENST00000313056.10",
"protein_id": "ENSP00000320116.5",
"transcript_support_level": 2,
"aa_start": 215,
"aa_end": null,
"aa_length": 319,
"cds_start": 644,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024648.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313056.10"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "c.644A>G",
"hgvs_p": "p.Asn215Ser",
"transcript": "ENST00000329197.9",
"protein_id": "ENSP00000330075.5",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 331,
"cds_start": 644,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329197.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "n.*255A>G",
"hgvs_p": null,
"transcript": "ENST00000580445.5",
"protein_id": "ENSP00000463566.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000580445.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "n.*255A>G",
"hgvs_p": null,
"transcript": "ENST00000580445.5",
"protein_id": "ENSP00000463566.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000580445.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "c.644A>G",
"hgvs_p": "p.Asn215Ser",
"transcript": "ENST00000949676.1",
"protein_id": "ENSP00000619735.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 361,
"cds_start": 644,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949676.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "c.644A>G",
"hgvs_p": "p.Asn215Ser",
"transcript": "ENST00000851499.1",
"protein_id": "ENSP00000521558.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 337,
"cds_start": 644,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851499.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "c.644A>G",
"hgvs_p": "p.Asn215Ser",
"transcript": "NM_175902.5",
"protein_id": "NP_787098.3",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 331,
"cds_start": 644,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175902.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "c.560A>G",
"hgvs_p": "p.Asn187Ser",
"transcript": "ENST00000851500.1",
"protein_id": "ENSP00000521559.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 291,
"cds_start": 560,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851500.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "c.536A>G",
"hgvs_p": "p.Asn179Ser",
"transcript": "ENST00000851498.1",
"protein_id": "ENSP00000521557.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 283,
"cds_start": 536,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851498.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Asn136Ser",
"transcript": "ENST00000583897.5",
"protein_id": "ENSP00000464195.1",
"transcript_support_level": 5,
"aa_start": 136,
"aa_end": null,
"aa_length": 240,
"cds_start": 407,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583897.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asn57Ser",
"transcript": "ENST00000583445.5",
"protein_id": "ENSP00000467074.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 217,
"cds_start": 170,
"cds_end": null,
"cds_length": 656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583445.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "c.644A>G",
"hgvs_p": "p.Asn215Ser",
"transcript": "XM_047436759.1",
"protein_id": "XP_047292715.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 319,
"cds_start": 644,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436759.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "c.546-4A>G",
"hgvs_p": null,
"transcript": "ENST00000851497.1",
"protein_id": "ENSP00000521556.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851497.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "c.-172-4A>G",
"hgvs_p": null,
"transcript": "ENST00000577495.5",
"protein_id": "ENSP00000466184.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 14,
"cds_start": null,
"cds_end": null,
"cds_length": 46,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577495.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "n.499A>G",
"hgvs_p": null,
"transcript": "ENST00000579407.5",
"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": "ENST00000579407.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "n.737A>G",
"hgvs_p": null,
"transcript": "NR_033265.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_033265.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "n.745A>G",
"hgvs_p": null,
"transcript": "XR_007065458.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_007065458.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"hgvs_c": "c.-26A>G",
"hgvs_p": null,
"transcript": "ENST00000582593.1",
"protein_id": "ENSP00000466117.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582593.1"
}
],
"gene_symbol": "OGFOD3",
"gene_hgnc_id": 26174,
"dbsnp": "rs765926113",
"frequency_reference_population": 0.000015519738,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000137105,
"gnomad_genomes_af": 0.0000328688,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6412512063980103,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.15,
"revel_prediction": "Benign",
"alphamissense_score": 0.1779,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.352,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_175902.5",
"gene_symbol": "OGFOD3",
"hgnc_id": 26174,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.644A>G",
"hgvs_p": "p.Asn215Ser"
}
],
"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
}