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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: 17-74842510-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74842510&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 74842510,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000293190.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.3627G>A",
"hgvs_p": "p.Arg1209Arg",
"transcript": "NM_000835.6",
"protein_id": "NP_000826.2",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3627,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 3784,
"cdna_end": null,
"cdna_length": 4271,
"mane_select": "ENST00000293190.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.3627G>A",
"hgvs_p": "p.Arg1209Arg",
"transcript": "ENST00000293190.10",
"protein_id": "ENSP00000293190.5",
"transcript_support_level": 1,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3627,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 3784,
"cdna_end": null,
"cdna_length": 4271,
"mane_select": "NM_000835.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.3714G>A",
"hgvs_p": "p.Arg1238Arg",
"transcript": "XM_011524689.3",
"protein_id": "XP_011522991.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3714,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 3871,
"cdna_end": null,
"cdna_length": 4358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.3711G>A",
"hgvs_p": "p.Arg1237Arg",
"transcript": "XM_011524686.4",
"protein_id": "XP_011522988.2",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3711,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 3726,
"cdna_end": null,
"cdna_length": 4213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.3690G>A",
"hgvs_p": "p.Arg1230Arg",
"transcript": "XM_011524687.4",
"protein_id": "XP_011522989.2",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3690,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 3705,
"cdna_end": null,
"cdna_length": 4192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.3651G>A",
"hgvs_p": "p.Arg1217Arg",
"transcript": "XM_011524688.4",
"protein_id": "XP_011522990.2",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 3666,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.3627G>A",
"hgvs_p": "p.Arg1209Arg",
"transcript": "XM_047435867.1",
"protein_id": "XP_047291823.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3627,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 3747,
"cdna_end": null,
"cdna_length": 4234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.3624G>A",
"hgvs_p": "p.Arg1208Arg",
"transcript": "XM_006721846.5",
"protein_id": "XP_006721909.2",
"transcript_support_level": null,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3624,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 3639,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.3780G>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRIN2C",
"gene_hgnc_id": 4587,
"dbsnp": "rs3744215",
"frequency_reference_population": 0.0000065783415,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657834,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7099999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.685,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000293190.10",
"gene_symbol": "GRIN2C",
"hgnc_id": 4587,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3627G>A",
"hgvs_p": "p.Arg1209Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}