← Back to variant description
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: 16-51139678-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=51139678&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 51139678,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000251020.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL1",
"gene_hgnc_id": 10524,
"hgvs_c": "c.2544A>G",
"hgvs_p": "p.Gln848Gln",
"transcript": "NM_002968.3",
"protein_id": "NP_002959.2",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1324,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 2573,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": "ENST00000251020.9",
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL1",
"gene_hgnc_id": 10524,
"hgvs_c": "c.2544A>G",
"hgvs_p": "p.Gln848Gln",
"transcript": "ENST00000251020.9",
"protein_id": "ENSP00000251020.4",
"transcript_support_level": 1,
"aa_start": 848,
"aa_end": null,
"aa_length": 1324,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 2573,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": "NM_002968.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SALL1",
"gene_hgnc_id": 10524,
"hgvs_c": "c.77-2126A>G",
"hgvs_p": null,
"transcript": "ENST00000566102.1",
"protein_id": "ENSP00000455582.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 34,
"cds_start": -4,
"cds_end": null,
"cds_length": 105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 565,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL1",
"gene_hgnc_id": 10524,
"hgvs_c": "c.2544A>G",
"hgvs_p": "p.Gln848Gln",
"transcript": "ENST00000440970.6",
"protein_id": "ENSP00000407914.2",
"transcript_support_level": 5,
"aa_start": 848,
"aa_end": null,
"aa_length": 1324,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 5122,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL1",
"gene_hgnc_id": 10524,
"hgvs_c": "c.2544A>G",
"hgvs_p": "p.Gln848Gln",
"transcript": "ENST00000685868.1",
"protein_id": "ENSP00000509873.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1324,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 2676,
"cdna_end": null,
"cdna_length": 5223,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL1",
"gene_hgnc_id": 10524,
"hgvs_c": "c.2253A>G",
"hgvs_p": "p.Gln751Gln",
"transcript": "NM_001127892.2",
"protein_id": "NP_001121364.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 1227,
"cds_start": 2253,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 2685,
"cdna_end": null,
"cdna_length": 5246,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL1",
"gene_hgnc_id": 10524,
"hgvs_c": "c.2253A>G",
"hgvs_p": "p.Gln751Gln",
"transcript": "ENST00000570206.2",
"protein_id": "ENSP00000456777.2",
"transcript_support_level": 5,
"aa_start": 751,
"aa_end": null,
"aa_length": 1227,
"cds_start": 2253,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 2685,
"cdna_end": null,
"cdna_length": 4116,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL1",
"gene_hgnc_id": 10524,
"hgvs_c": "c.2544A>G",
"hgvs_p": "p.Gln848Gln",
"transcript": "ENST00000690502.1",
"protein_id": "ENSP00000510560.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2544,
"cdna_end": null,
"cdna_length": 4035,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL1",
"gene_hgnc_id": 10524,
"hgvs_c": "c.2544A>G",
"hgvs_p": "p.Gln848Gln",
"transcript": "XM_047434442.1",
"protein_id": "XP_047290398.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1324,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 2710,
"cdna_end": null,
"cdna_length": 5271,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL1",
"gene_hgnc_id": 10524,
"hgvs_c": "c.2544A>G",
"hgvs_p": "p.Gln848Gln",
"transcript": "XM_047434443.1",
"protein_id": "XP_047290399.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1324,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 5159,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL1",
"gene_hgnc_id": 10524,
"hgvs_c": "c.2544A>G",
"hgvs_p": "p.Gln848Gln",
"transcript": "XM_047434444.1",
"protein_id": "XP_047290400.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1324,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 2950,
"cdna_end": null,
"cdna_length": 5511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SALL1",
"gene_hgnc_id": 10524,
"dbsnp": "rs45459896",
"frequency_reference_population": 0.013564429,
"hom_count_reference_population": 191,
"allele_count_reference_population": 21896,
"gnomad_exomes_af": 0.0140395,
"gnomad_genomes_af": 0.00900605,
"gnomad_exomes_ac": 20524,
"gnomad_genomes_ac": 1372,
"gnomad_exomes_homalt": 179,
"gnomad_genomes_homalt": 12,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7200000286102295,
"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": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.032,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000251020.9",
"gene_symbol": "SALL1",
"hgnc_id": 10524,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2544A>G",
"hgvs_p": "p.Gln848Gln"
}
],
"clinvar_disease": "Townes syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|not provided|Townes syndrome",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}