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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: 17-35977690-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35977690&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 35977690,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004590.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCL16",
"gene_hgnc_id": 10614,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Asn80Ser",
"transcript": "NM_004590.4",
"protein_id": "NP_004581.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 120,
"cds_start": 239,
"cds_end": null,
"cds_length": 363,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 1507,
"mane_select": "ENST00000611905.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004590.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCL16",
"gene_hgnc_id": 10614,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Asn80Ser",
"transcript": "ENST00000611905.2",
"protein_id": "ENSP00000478024.1",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 120,
"cds_start": 239,
"cds_end": null,
"cds_length": 363,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 1507,
"mane_select": "NM_004590.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611905.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCL16",
"gene_hgnc_id": 10614,
"hgvs_c": "c.260A>G",
"hgvs_p": "p.Asn87Ser",
"transcript": "ENST00000890729.1",
"protein_id": "ENSP00000560788.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 127,
"cds_start": 260,
"cds_end": null,
"cds_length": 384,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890729.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCL16",
"gene_hgnc_id": 10614,
"hgvs_c": "c.236A>G",
"hgvs_p": "p.Asn79Ser",
"transcript": "ENST00000890728.1",
"protein_id": "ENSP00000560787.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 119,
"cds_start": 236,
"cds_end": null,
"cds_length": 360,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890728.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCL16",
"gene_hgnc_id": 10614,
"hgvs_c": "n.*309A>G",
"hgvs_p": null,
"transcript": "ENST00000610493.1",
"protein_id": "ENSP00000478934.1",
"transcript_support_level": 5,
"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": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000610493.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCL16",
"gene_hgnc_id": 10614,
"hgvs_c": "n.161A>G",
"hgvs_p": null,
"transcript": "ENST00000613642.4",
"protein_id": "ENSP00000478592.1",
"transcript_support_level": 3,
"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": 687,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000613642.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCL16",
"gene_hgnc_id": 10614,
"hgvs_c": "n.*309A>G",
"hgvs_p": null,
"transcript": "ENST00000610493.1",
"protein_id": "ENSP00000478934.1",
"transcript_support_level": 5,
"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": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000610493.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000270240",
"gene_hgnc_id": 58767,
"hgvs_c": "n.149-19509T>C",
"hgvs_p": null,
"transcript": "ENST00000788510.1",
"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": 405,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000788510.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000302706",
"gene_hgnc_id": null,
"hgvs_c": "n.121+42T>C",
"hgvs_p": null,
"transcript": "ENST00000789008.1",
"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": 872,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000789008.1"
}
],
"gene_symbol": "CCL16",
"gene_hgnc_id": 10614,
"dbsnp": "rs768847780",
"frequency_reference_population": 0.000021090476,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000198633,
"gnomad_genomes_af": 0.0000328679,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014843344688415527,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.0632,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.92,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_004590.4",
"gene_symbol": "CCL16",
"hgnc_id": 10614,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Asn80Ser"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000788510.1",
"gene_symbol": "ENSG00000270240",
"hgnc_id": 58767,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.149-19509T>C",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000789008.1",
"gene_symbol": "ENSG00000302706",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.121+42T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}