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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: 17-27758944-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=27758944&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 27758944,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000313735.11",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS2",
"gene_hgnc_id": 7873,
"hgvs_c": "c.3291G>A",
"hgvs_p": "p.Gln1097Gln",
"transcript": "NM_000625.4",
"protein_id": "NP_000616.3",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1153,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 3555,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": "ENST00000313735.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS2",
"gene_hgnc_id": 7873,
"hgvs_c": "c.3291G>A",
"hgvs_p": "p.Gln1097Gln",
"transcript": "ENST00000313735.11",
"protein_id": "ENSP00000327251.6",
"transcript_support_level": 1,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1153,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 3555,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": "NM_000625.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS2",
"gene_hgnc_id": 7873,
"hgvs_c": "c.3288G>A",
"hgvs_p": "p.Gln1096Gln",
"transcript": "ENST00000646938.1",
"protein_id": "ENSP00000494870.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3288,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 3374,
"cdna_end": null,
"cdna_length": 3995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS2",
"gene_hgnc_id": 7873,
"hgvs_c": "c.2253G>A",
"hgvs_p": "p.Gln751Gln",
"transcript": "ENST00000697339.1",
"protein_id": "ENSP00000513261.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 807,
"cds_start": 2253,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 2884,
"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": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS2",
"gene_hgnc_id": 7873,
"hgvs_c": "n.*3955G>A",
"hgvs_p": null,
"transcript": "ENST00000697337.1",
"protein_id": "ENSP00000513259.1",
"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": 5071,
"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": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS2",
"gene_hgnc_id": 7873,
"hgvs_c": "n.*2737G>A",
"hgvs_p": null,
"transcript": "ENST00000697338.1",
"protein_id": "ENSP00000513260.1",
"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": 3770,
"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": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS2",
"gene_hgnc_id": 7873,
"hgvs_c": "n.*2004G>A",
"hgvs_p": null,
"transcript": "ENST00000697340.1",
"protein_id": "ENSP00000513262.1",
"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": 4131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS2",
"gene_hgnc_id": 7873,
"hgvs_c": "n.*3955G>A",
"hgvs_p": null,
"transcript": "ENST00000697337.1",
"protein_id": "ENSP00000513259.1",
"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": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS2",
"gene_hgnc_id": 7873,
"hgvs_c": "n.*2737G>A",
"hgvs_p": null,
"transcript": "ENST00000697338.1",
"protein_id": "ENSP00000513260.1",
"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": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS2",
"gene_hgnc_id": 7873,
"hgvs_c": "n.*2004G>A",
"hgvs_p": null,
"transcript": "ENST00000697340.1",
"protein_id": "ENSP00000513262.1",
"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": 4131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NOS2",
"gene_hgnc_id": 7873,
"dbsnp": "rs750641734",
"frequency_reference_population": 0.000011165782,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000109614,
"gnomad_genomes_af": 0.0000131239,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.47999998927116394,
"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": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.135,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6,BP7",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000313735.11",
"gene_symbol": "NOS2",
"hgnc_id": 7873,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.3291G>A",
"hgvs_p": "p.Gln1097Gln"
}
],
"clinvar_disease": "NOS2-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "NOS2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}