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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: 13-49131239-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=49131239&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 49131239,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001079673.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Leu119Leu",
"transcript": "NM_001079673.2",
"protein_id": "NP_001073141.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 1198,
"cds_start": 355,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000492622.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079673.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Leu119Leu",
"transcript": "ENST00000492622.6",
"protein_id": "ENSP00000417257.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 1198,
"cds_start": 355,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001079673.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492622.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Leu119Leu",
"transcript": "ENST00000541916.5",
"protein_id": "ENSP00000441831.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 1198,
"cds_start": 355,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541916.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Leu63Leu",
"transcript": "ENST00000398316.7",
"protein_id": "ENSP00000381362.3",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 1142,
"cds_start": 187,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398316.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "n.355C>T",
"hgvs_p": null,
"transcript": "ENST00000484074.5",
"protein_id": "ENSP00000420275.1",
"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": "ENST00000484074.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Leu119Leu",
"transcript": "NM_001278438.2",
"protein_id": "NP_001265367.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 1198,
"cds_start": 355,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278438.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Leu119Leu",
"transcript": "ENST00000851214.1",
"protein_id": "ENSP00000521273.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 1196,
"cds_start": 355,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851214.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Leu119Leu",
"transcript": "ENST00000934564.1",
"protein_id": "ENSP00000604623.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 1196,
"cds_start": 355,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934564.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Leu119Leu",
"transcript": "ENST00000934563.1",
"protein_id": "ENSP00000604622.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 1180,
"cds_start": 355,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934563.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Leu119Leu",
"transcript": "ENST00000934565.1",
"protein_id": "ENSP00000604624.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 1180,
"cds_start": 355,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934565.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Leu119Leu",
"transcript": "ENST00000851215.1",
"protein_id": "ENSP00000521274.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 1178,
"cds_start": 355,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851215.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Leu119Leu",
"transcript": "ENST00000971119.1",
"protein_id": "ENSP00000641178.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 1178,
"cds_start": 355,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971119.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Leu63Leu",
"transcript": "NM_014923.5",
"protein_id": "NP_055738.3",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 1142,
"cds_start": 187,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014923.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Leu119Leu",
"transcript": "ENST00000971118.1",
"protein_id": "ENSP00000641177.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 1080,
"cds_start": 355,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971118.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Leu119Leu",
"transcript": "ENST00000378383.5",
"protein_id": "ENSP00000484320.1",
"transcript_support_level": 2,
"aa_start": 119,
"aa_end": null,
"aa_length": 326,
"cds_start": 355,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378383.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Leu119Leu",
"transcript": "XM_017020440.3",
"protein_id": "XP_016875929.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 1198,
"cds_start": 355,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020440.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Leu55Leu",
"transcript": "XM_011534997.4",
"protein_id": "XP_011533299.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1134,
"cds_start": 163,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534997.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Leu119Leu",
"transcript": "XM_017020443.2",
"protein_id": "XP_016875932.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 1041,
"cds_start": 355,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020443.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"hgvs_c": "n.650C>T",
"hgvs_p": null,
"transcript": "NR_103528.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_103528.2"
}
],
"gene_symbol": "FNDC3A",
"gene_hgnc_id": 20296,
"dbsnp": "rs772925881",
"frequency_reference_population": 0.0000020521913,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205219,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3400000035762787,
"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": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.684,
"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_001079673.2",
"gene_symbol": "FNDC3A",
"hgnc_id": 20296,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Leu119Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}