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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: 17-30211356-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=30211356&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 30211356,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001045.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A4",
"gene_hgnc_id": 11050,
"hgvs_c": "c.1273A>G",
"hgvs_p": "p.Ile425Val",
"transcript": "NM_001045.6",
"protein_id": "NP_001036.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 630,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000650711.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001045.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A4",
"gene_hgnc_id": 11050,
"hgvs_c": "c.1273A>G",
"hgvs_p": "p.Ile425Val",
"transcript": "ENST00000650711.1",
"protein_id": "ENSP00000498537.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 630,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001045.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650711.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A4",
"gene_hgnc_id": 11050,
"hgvs_c": "c.1273A>G",
"hgvs_p": "p.Ile425Val",
"transcript": "ENST00000261707.7",
"protein_id": "ENSP00000261707.3",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 630,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261707.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A4",
"gene_hgnc_id": 11050,
"hgvs_c": "c.1273A>G",
"hgvs_p": "p.Ile425Val",
"transcript": "ENST00000394821.2",
"protein_id": "ENSP00000378298.2",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 617,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394821.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A4",
"gene_hgnc_id": 11050,
"hgvs_c": "n.13A>G",
"hgvs_p": null,
"transcript": "ENST00000579221.5",
"protein_id": "ENSP00000463172.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000579221.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A4",
"gene_hgnc_id": 11050,
"hgvs_c": "c.1273A>G",
"hgvs_p": "p.Ile425Val",
"transcript": "ENST00000401766.6",
"protein_id": "ENSP00000385822.2",
"transcript_support_level": 5,
"aa_start": 425,
"aa_end": null,
"aa_length": 630,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401766.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A4",
"gene_hgnc_id": 11050,
"hgvs_c": "c.1273A>G",
"hgvs_p": "p.Ile425Val",
"transcript": "ENST00000855095.1",
"protein_id": "ENSP00000525154.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 630,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855095.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A4",
"gene_hgnc_id": 11050,
"hgvs_c": "c.1273A>G",
"hgvs_p": "p.Ile425Val",
"transcript": "ENST00000855096.1",
"protein_id": "ENSP00000525155.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 630,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855096.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A4",
"gene_hgnc_id": 11050,
"hgvs_c": "c.1273A>G",
"hgvs_p": "p.Ile425Val",
"transcript": "ENST00000855100.1",
"protein_id": "ENSP00000525159.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 630,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855100.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A4",
"gene_hgnc_id": 11050,
"hgvs_c": "c.1138A>G",
"hgvs_p": "p.Ile380Val",
"transcript": "ENST00000855098.1",
"protein_id": "ENSP00000525157.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 585,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855098.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A4",
"gene_hgnc_id": 11050,
"hgvs_c": "c.1273A>G",
"hgvs_p": "p.Ile425Val",
"transcript": "ENST00000855099.1",
"protein_id": "ENSP00000525158.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 574,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855099.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A4",
"gene_hgnc_id": 11050,
"hgvs_c": "c.1273A>G",
"hgvs_p": "p.Ile425Val",
"transcript": "ENST00000958995.1",
"protein_id": "ENSP00000629054.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 574,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958995.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A4",
"gene_hgnc_id": 11050,
"hgvs_c": "c.1273A>G",
"hgvs_p": "p.Ile425Val",
"transcript": "ENST00000855097.1",
"protein_id": "ENSP00000525156.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 563,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855097.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A4",
"gene_hgnc_id": 11050,
"hgvs_c": "c.1273A>G",
"hgvs_p": "p.Ile425Val",
"transcript": "ENST00000958994.1",
"protein_id": "ENSP00000629053.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 563,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958994.1"
}
],
"gene_symbol": "SLC6A4",
"gene_hgnc_id": 11050,
"dbsnp": "rs28914832",
"frequency_reference_population": 0.00081864704,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1321,
"gnomad_exomes_af": 0.000830713,
"gnomad_genomes_af": 0.000702828,
"gnomad_exomes_ac": 1214,
"gnomad_genomes_ac": 107,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.020125895738601685,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.246,
"revel_prediction": "Benign",
"alphamissense_score": 0.0574,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.23,
"phylop100way_prediction": "Uncertain_significance",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS2_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_001045.6",
"gene_symbol": "SLC6A4",
"hgnc_id": 11050,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1273A>G",
"hgvs_p": "p.Ile425Val"
}
],
"clinvar_disease": " susceptibility to,Behavior disorder,Obsessive-compulsive disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Obsessive-compulsive disorder, susceptibility to|Behavior disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}