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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: 17-27758954-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=27758954&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NOS2",
"hgnc_id": 7873,
"hgvs_c": "c.3281C>G",
"hgvs_p": "p.Thr1094Ser",
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_000625.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.127,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5817828178405762,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1153,
"aa_ref": "T",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4206,
"cdna_start": 3545,
"cds_end": null,
"cds_length": 3462,
"cds_start": 3281,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_000625.4",
"gene_hgnc_id": 7873,
"gene_symbol": "NOS2",
"hgvs_c": "c.3281C>G",
"hgvs_p": "p.Thr1094Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000313735.11",
"protein_coding": true,
"protein_id": "NP_000616.3",
"strand": false,
"transcript": "NM_000625.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1153,
"aa_ref": "T",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4206,
"cdna_start": 3545,
"cds_end": null,
"cds_length": 3462,
"cds_start": 3281,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000313735.11",
"gene_hgnc_id": 7873,
"gene_symbol": "NOS2",
"hgvs_c": "c.3281C>G",
"hgvs_p": "p.Thr1094Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000625.4",
"protein_coding": true,
"protein_id": "ENSP00000327251.6",
"strand": false,
"transcript": "ENST00000313735.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1153,
"aa_ref": "T",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4209,
"cdna_start": 3548,
"cds_end": null,
"cds_length": 3462,
"cds_start": 3281,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000886820.1",
"gene_hgnc_id": 7873,
"gene_symbol": "NOS2",
"hgvs_c": "c.3281C>G",
"hgvs_p": "p.Thr1094Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556879.1",
"strand": false,
"transcript": "ENST00000886820.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1152,
"aa_ref": "T",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3995,
"cdna_start": 3364,
"cds_end": null,
"cds_length": 3459,
"cds_start": 3278,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000646938.1",
"gene_hgnc_id": 7873,
"gene_symbol": "NOS2",
"hgvs_c": "c.3278C>G",
"hgvs_p": "p.Thr1093Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494870.1",
"strand": false,
"transcript": "ENST00000646938.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 807,
"aa_ref": "T",
"aa_start": 748,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2884,
"cdna_start": 2243,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2243,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000697339.1",
"gene_hgnc_id": 7873,
"gene_symbol": "NOS2",
"hgvs_c": "c.2243C>G",
"hgvs_p": "p.Thr748Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513261.1",
"strand": false,
"transcript": "ENST00000697339.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5071,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000697337.1",
"gene_hgnc_id": 7873,
"gene_symbol": "NOS2",
"hgvs_c": "n.*3945C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513259.1",
"strand": false,
"transcript": "ENST00000697337.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3770,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000697338.1",
"gene_hgnc_id": 7873,
"gene_symbol": "NOS2",
"hgvs_c": "n.*2727C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513260.1",
"strand": false,
"transcript": "ENST00000697338.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4131,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000697340.1",
"gene_hgnc_id": 7873,
"gene_symbol": "NOS2",
"hgvs_c": "n.*1994C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513262.1",
"strand": false,
"transcript": "ENST00000697340.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5071,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000697337.1",
"gene_hgnc_id": 7873,
"gene_symbol": "NOS2",
"hgvs_c": "n.*3945C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513259.1",
"strand": false,
"transcript": "ENST00000697337.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3770,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000697338.1",
"gene_hgnc_id": 7873,
"gene_symbol": "NOS2",
"hgvs_c": "n.*2727C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513260.1",
"strand": false,
"transcript": "ENST00000697338.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4131,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000697340.1",
"gene_hgnc_id": 7873,
"gene_symbol": "NOS2",
"hgvs_c": "n.*1994C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513262.1",
"strand": false,
"transcript": "ENST00000697340.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1908019475",
"effect": "missense_variant",
"frequency_reference_population": 0.0000041084577,
"gene_hgnc_id": 7873,
"gene_symbol": "NOS2",
"gnomad_exomes_ac": 6,
"gnomad_exomes_af": 0.00000410846,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.673,
"pos": 27758954,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.436,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000625.4"
}
]
}