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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: 9-136673876-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136673876&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 136673876,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006412.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT2",
"gene_hgnc_id": 325,
"hgvs_c": "c.713C>G",
"hgvs_p": "p.Ala238Gly",
"transcript": "NM_006412.4",
"protein_id": "NP_006403.2",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 278,
"cds_start": 713,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371696.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006412.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT2",
"gene_hgnc_id": 325,
"hgvs_c": "c.713C>G",
"hgvs_p": "p.Ala238Gly",
"transcript": "ENST00000371696.7",
"protein_id": "ENSP00000360761.2",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 278,
"cds_start": 713,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006412.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371696.7"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT2",
"gene_hgnc_id": 325,
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ala206Gly",
"transcript": "ENST00000371694.7",
"protein_id": "ENSP00000360759.3",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 246,
"cds_start": 617,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371694.7"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT2",
"gene_hgnc_id": 325,
"hgvs_c": "n.641C>G",
"hgvs_p": null,
"transcript": "ENST00000472820.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000472820.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT2",
"gene_hgnc_id": 325,
"hgvs_c": "c.827C>G",
"hgvs_p": "p.Ala276Gly",
"transcript": "ENST00000951406.1",
"protein_id": "ENSP00000621465.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 316,
"cds_start": 827,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951406.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT2",
"gene_hgnc_id": 325,
"hgvs_c": "c.785C>G",
"hgvs_p": "p.Ala262Gly",
"transcript": "ENST00000951405.1",
"protein_id": "ENSP00000621464.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 302,
"cds_start": 785,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951405.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT2",
"gene_hgnc_id": 325,
"hgvs_c": "c.773C>G",
"hgvs_p": "p.Ala258Gly",
"transcript": "ENST00000882836.1",
"protein_id": "ENSP00000552895.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 298,
"cds_start": 773,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882836.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT2",
"gene_hgnc_id": 325,
"hgvs_c": "c.752C>G",
"hgvs_p": "p.Ala251Gly",
"transcript": "ENST00000882838.1",
"protein_id": "ENSP00000552897.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 291,
"cds_start": 752,
"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": "ENST00000882838.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT2",
"gene_hgnc_id": 325,
"hgvs_c": "c.749C>G",
"hgvs_p": "p.Ala250Gly",
"transcript": "ENST00000882833.1",
"protein_id": "ENSP00000552892.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 290,
"cds_start": 749,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882833.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT2",
"gene_hgnc_id": 325,
"hgvs_c": "c.746C>G",
"hgvs_p": "p.Ala249Gly",
"transcript": "ENST00000882832.1",
"protein_id": "ENSP00000552891.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 289,
"cds_start": 746,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882832.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT2",
"gene_hgnc_id": 325,
"hgvs_c": "c.731C>G",
"hgvs_p": "p.Ala244Gly",
"transcript": "ENST00000882834.1",
"protein_id": "ENSP00000552893.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 284,
"cds_start": 731,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882834.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT2",
"gene_hgnc_id": 325,
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"transcript": "ENST00000882835.1",
"protein_id": "ENSP00000552894.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 276,
"cds_start": 707,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882835.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT2",
"gene_hgnc_id": 325,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Ala234Gly",
"transcript": "ENST00000882837.1",
"protein_id": "ENSP00000552896.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 274,
"cds_start": 701,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882837.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT2",
"gene_hgnc_id": 325,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Ala217Gly",
"transcript": "ENST00000951407.1",
"protein_id": "ENSP00000621466.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 257,
"cds_start": 650,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951407.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT2",
"gene_hgnc_id": 325,
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Ala206Gly",
"transcript": "NM_001012727.2",
"protein_id": "NP_001012745.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 246,
"cds_start": 617,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012727.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT2",
"gene_hgnc_id": 325,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Ala135Gly",
"transcript": "XM_047422636.1",
"protein_id": "XP_047278592.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 175,
"cds_start": 404,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422636.1"
}
],
"gene_symbol": "AGPAT2",
"gene_hgnc_id": 325,
"dbsnp": "rs200656731",
"frequency_reference_population": 0.000023085928,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.0000248187,
"gnomad_genomes_af": 0.00000657082,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1841726303100586,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.572,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1637,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.125,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006412.4",
"gene_symbol": "AGPAT2",
"hgnc_id": 325,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.713C>G",
"hgvs_p": "p.Ala238Gly"
}
],
"clinvar_disease": "Congenital generalized lipodystrophy type 1",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Congenital generalized lipodystrophy type 1",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}