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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: 17-74842569-T-TGCCCCTGTGCCCCAGAGGCCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74842569&ref=T&alt=TGCCCCTGTGCCCCAGAGGCCC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 74842569,
"ref": "T",
"alt": "TGCCCCTGTGCCCCAGAGGCCC",
"effect": "conservative_inframe_insertion",
"transcript": "NM_000835.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "GGPLGHRG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2C",
"gene_hgnc_id": 4587,
"hgvs_c": "c.3547_3567dupGGGCCTCTGGGGCACAGGGGC",
"hgvs_p": "p.Gly1189_Arg1190insGlyProLeuGlyHisArgGly",
"transcript": "NM_000835.6",
"protein_id": "NP_000826.2",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3567,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000293190.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000835.6"
},
{
"aa_ref": "G",
"aa_alt": "GGPLGHRG",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2C",
"gene_hgnc_id": 4587,
"hgvs_c": "c.3547_3567dupGGGCCTCTGGGGCACAGGGGC",
"hgvs_p": "p.Gly1189_Arg1190insGlyProLeuGlyHisArgGly",
"transcript": "ENST00000293190.10",
"protein_id": "ENSP00000293190.5",
"transcript_support_level": 1,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3567,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000835.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293190.10"
},
{
"aa_ref": "G",
"aa_alt": "GGPLGHRG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2C",
"gene_hgnc_id": 4587,
"hgvs_c": "c.3610_3630dupGGGCCTCTGGGGCACAGGGGC",
"hgvs_p": "p.Gly1210_Arg1211insGlyProLeuGlyHisArgGly",
"transcript": "ENST00000940919.1",
"protein_id": "ENSP00000610978.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940919.1"
},
{
"aa_ref": "G",
"aa_alt": "GGPLGHRG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2C",
"gene_hgnc_id": 4587,
"hgvs_c": "c.3571_3591dupGGGCCTCTGGGGCACAGGGGC",
"hgvs_p": "p.Gly1197_Arg1198insGlyProLeuGlyHisArgGly",
"transcript": "ENST00000940918.1",
"protein_id": "ENSP00000610977.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3591,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940918.1"
},
{
"aa_ref": "G",
"aa_alt": "GGPLGHRG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2C",
"gene_hgnc_id": 4587,
"hgvs_c": "c.3547_3567dupGGGCCTCTGGGGCACAGGGGC",
"hgvs_p": "p.Gly1189_Arg1190insGlyProLeuGlyHisArgGly",
"transcript": "ENST00000891066.1",
"protein_id": "ENSP00000561125.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3567,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891066.1"
},
{
"aa_ref": "G",
"aa_alt": "GGPLGHRG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2C",
"gene_hgnc_id": 4587,
"hgvs_c": "c.3547_3567dupGGGCCTCTGGGGCACAGGGGC",
"hgvs_p": "p.Gly1189_Arg1190insGlyProLeuGlyHisArgGly",
"transcript": "ENST00000940920.1",
"protein_id": "ENSP00000610979.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3567,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940920.1"
},
{
"aa_ref": "G",
"aa_alt": "GGPLGHRG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2C",
"gene_hgnc_id": 4587,
"hgvs_c": "c.3544_3564dupGGGCCTCTGGGGCACAGGGGC",
"hgvs_p": "p.Gly1188_Arg1189insGlyProLeuGlyHisArgGly",
"transcript": "ENST00000940917.1",
"protein_id": "ENSP00000610976.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3564,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940917.1"
},
{
"aa_ref": "G",
"aa_alt": "GGPLGHRG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2C",
"gene_hgnc_id": 4587,
"hgvs_c": "c.3634_3654dupGGGCCTCTGGGGCACAGGGGC",
"hgvs_p": "p.Gly1218_Arg1219insGlyProLeuGlyHisArgGly",
"transcript": "XM_011524689.3",
"protein_id": "XP_011522991.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3654,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524689.3"
},
{
"aa_ref": "G",
"aa_alt": "GGPLGHRG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2C",
"gene_hgnc_id": 4587,
"hgvs_c": "c.3631_3651dupGGGCCTCTGGGGCACAGGGGC",
"hgvs_p": "p.Gly1217_Arg1218insGlyProLeuGlyHisArgGly",
"transcript": "XM_011524686.4",
"protein_id": "XP_011522988.2",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524686.4"
},
{
"aa_ref": "G",
"aa_alt": "GGPLGHRG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2C",
"gene_hgnc_id": 4587,
"hgvs_c": "c.3610_3630dupGGGCCTCTGGGGCACAGGGGC",
"hgvs_p": "p.Gly1210_Arg1211insGlyProLeuGlyHisArgGly",
"transcript": "XM_011524687.4",
"protein_id": "XP_011522989.2",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524687.4"
},
{
"aa_ref": "G",
"aa_alt": "GGPLGHRG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2C",
"gene_hgnc_id": 4587,
"hgvs_c": "c.3571_3591dupGGGCCTCTGGGGCACAGGGGC",
"hgvs_p": "p.Gly1197_Arg1198insGlyProLeuGlyHisArgGly",
"transcript": "XM_011524688.4",
"protein_id": "XP_011522990.2",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3591,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524688.4"
},
{
"aa_ref": "G",
"aa_alt": "GGPLGHRG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2C",
"gene_hgnc_id": 4587,
"hgvs_c": "c.3547_3567dupGGGCCTCTGGGGCACAGGGGC",
"hgvs_p": "p.Gly1189_Arg1190insGlyProLeuGlyHisArgGly",
"transcript": "XM_047435867.1",
"protein_id": "XP_047291823.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3567,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435867.1"
},
{
"aa_ref": "G",
"aa_alt": "GGPLGHRG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2C",
"gene_hgnc_id": 4587,
"hgvs_c": "c.3544_3564dupGGGCCTCTGGGGCACAGGGGC",
"hgvs_p": "p.Gly1188_Arg1189insGlyProLeuGlyHisArgGly",
"transcript": "XM_006721846.5",
"protein_id": "XP_006721909.2",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3564,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721846.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2C",
"gene_hgnc_id": 4587,
"hgvs_c": "n.3700_3720dupGGGCCTCTGGGGCACAGGGGC",
"hgvs_p": null,
"transcript": "NR_103735.2",
"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_103735.2"
}
],
"gene_symbol": "GRIN2C",
"gene_hgnc_id": 4587,
"dbsnp": "rs768223291",
"frequency_reference_population": 0.00029272944,
"hom_count_reference_population": 1,
"allele_count_reference_population": 226,
"gnomad_exomes_af": 0.000114178,
"gnomad_genomes_af": 0.00103192,
"gnomad_exomes_ac": 71,
"gnomad_genomes_ac": 155,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.287,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM4,BP6,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM4",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_000835.6",
"gene_symbol": "GRIN2C",
"hgnc_id": 4587,
"effects": [
"conservative_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3547_3567dupGGGCCTCTGGGGCACAGGGGC",
"hgvs_p": "p.Gly1189_Arg1190insGlyProLeuGlyHisArgGly"
}
],
"clinvar_disease": "GRIN2C-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "GRIN2C-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}