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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: 11-10306000-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=10306000&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 10306000,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001124.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADM",
"gene_hgnc_id": 259,
"hgvs_c": "c.150C>T",
"hgvs_p": "p.Ser50Ser",
"transcript": "NM_001124.3",
"protein_id": "NP_001115.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 185,
"cds_start": 150,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278175.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001124.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADM",
"gene_hgnc_id": 259,
"hgvs_c": "c.150C>T",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000278175.10",
"protein_id": "ENSP00000278175.5",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 185,
"cds_start": 150,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001124.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278175.10"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADM",
"gene_hgnc_id": 259,
"hgvs_c": "c.150C>T",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000528655.5",
"protein_id": "ENSP00000436607.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 185,
"cds_start": 150,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528655.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADM",
"gene_hgnc_id": 259,
"hgvs_c": "c.150C>T",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000525063.2",
"protein_id": "ENSP00000435124.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 185,
"cds_start": 150,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525063.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADM",
"gene_hgnc_id": 259,
"hgvs_c": "c.150C>T",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000879128.1",
"protein_id": "ENSP00000549187.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 185,
"cds_start": 150,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879128.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADM",
"gene_hgnc_id": 259,
"hgvs_c": "c.150C>T",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000912087.1",
"protein_id": "ENSP00000582146.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 185,
"cds_start": 150,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912087.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADM",
"gene_hgnc_id": 259,
"hgvs_c": "c.150C>T",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000963835.1",
"protein_id": "ENSP00000633894.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 185,
"cds_start": 150,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963835.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADM",
"gene_hgnc_id": 259,
"hgvs_c": "c.150C>T",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000879129.1",
"protein_id": "ENSP00000549188.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 184,
"cds_start": 150,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879129.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADM",
"gene_hgnc_id": 259,
"hgvs_c": "c.150C>T",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000963836.1",
"protein_id": "ENSP00000633895.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 184,
"cds_start": 150,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963836.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADM",
"gene_hgnc_id": 259,
"hgvs_c": "c.150C>T",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000526492.4",
"protein_id": "ENSP00000434354.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 139,
"cds_start": 150,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526492.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADM",
"gene_hgnc_id": 259,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Ser3Ser",
"transcript": "ENST00000534464.1",
"protein_id": "ENSP00000431438.1",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 138,
"cds_start": 9,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534464.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADM",
"gene_hgnc_id": 259,
"hgvs_c": "c.150C>T",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000524948.5",
"protein_id": "ENSP00000433062.1",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 83,
"cds_start": 150,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524948.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADM",
"gene_hgnc_id": 259,
"hgvs_c": "c.150C>T",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000528544.1",
"protein_id": "ENSP00000434749.1",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 83,
"cds_start": 150,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528544.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADM",
"gene_hgnc_id": 259,
"hgvs_c": "c.-288C>T",
"hgvs_p": null,
"transcript": "ENST00000530439.1",
"protein_id": "ENSP00000436837.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": null,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530439.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADM",
"gene_hgnc_id": 259,
"hgvs_c": "c.98+202C>T",
"hgvs_p": null,
"transcript": "ENST00000912086.1",
"protein_id": "ENSP00000582145.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912086.1"
}
],
"gene_symbol": "ADM",
"gene_hgnc_id": 259,
"dbsnp": "rs5005",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"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": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.915,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001124.3",
"gene_symbol": "ADM",
"hgnc_id": 259,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.150C>T",
"hgvs_p": "p.Ser50Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}