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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: 13-49145779-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=49145779&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "FNDC3A",
"hgnc_id": 20296,
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001079673.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 46,
"alphamissense_prediction": null,
"alphamissense_score": 0.1733,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "13",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.021779894828796387,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "A",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6286,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 3597,
"cds_start": 821,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001079673.2",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000492622.6",
"protein_coding": true,
"protein_id": "NP_001073141.1",
"strand": true,
"transcript": "NM_001079673.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "A",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6286,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 3597,
"cds_start": 821,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000492622.6",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001079673.2",
"protein_coding": true,
"protein_id": "ENSP00000417257.1",
"strand": true,
"transcript": "ENST00000492622.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "A",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6328,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 3597,
"cds_start": 821,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000541916.5",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441831.1",
"strand": true,
"transcript": "ENST00000541916.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "A",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5714,
"cdna_start": 740,
"cds_end": null,
"cds_length": 3429,
"cds_start": 653,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000398316.7",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ala218Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381362.3",
"strand": true,
"transcript": "ENST00000398316.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6082,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000484074.5",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "n.821C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000420275.1",
"strand": true,
"transcript": "ENST00000484074.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "A",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6276,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 3597,
"cds_start": 821,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001278438.2",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265367.1",
"strand": true,
"transcript": "NM_001278438.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1196,
"aa_ref": "A",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6092,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 3591,
"cds_start": 815,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000851214.1",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Ala272Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521273.1",
"strand": true,
"transcript": "ENST00000851214.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1196,
"aa_ref": "A",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6424,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 3591,
"cds_start": 815,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000934564.1",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Ala272Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604623.1",
"strand": true,
"transcript": "ENST00000934564.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1180,
"aa_ref": "A",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6044,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 3543,
"cds_start": 821,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000934563.1",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604622.1",
"strand": true,
"transcript": "ENST00000934563.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1180,
"aa_ref": "A",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6096,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 3543,
"cds_start": 821,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000934565.1",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604624.1",
"strand": true,
"transcript": "ENST00000934565.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "A",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5938,
"cdna_start": 1115,
"cds_end": null,
"cds_length": 3537,
"cds_start": 821,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000851215.1",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521274.1",
"strand": true,
"transcript": "ENST00000851215.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "A",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6028,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 3537,
"cds_start": 821,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000971119.1",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641178.1",
"strand": true,
"transcript": "ENST00000971119.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "A",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5896,
"cdna_start": 736,
"cds_end": null,
"cds_length": 3429,
"cds_start": 653,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_014923.5",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ala218Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055738.3",
"strand": true,
"transcript": "NM_014923.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1080,
"aa_ref": "A",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5739,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 3243,
"cds_start": 821,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000971118.1",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641177.1",
"strand": true,
"transcript": "ENST00000971118.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 326,
"aa_ref": "A",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2037,
"cdna_start": 969,
"cds_end": null,
"cds_length": 981,
"cds_start": 821,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000378383.5",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484320.1",
"strand": true,
"transcript": "ENST00000378383.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "A",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6121,
"cdna_start": 961,
"cds_end": null,
"cds_length": 3597,
"cds_start": 821,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017020440.3",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875929.1",
"strand": true,
"transcript": "XM_017020440.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1134,
"aa_ref": "A",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5865,
"cdna_start": 705,
"cds_end": null,
"cds_length": 3405,
"cds_start": 629,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011534997.4",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Ala210Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533299.1",
"strand": true,
"transcript": "XM_011534997.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1041,
"aa_ref": "A",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3943,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 3126,
"cds_start": 821,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017020443.2",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875932.1",
"strand": true,
"transcript": "XM_017020443.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6265,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NR_103528.2",
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"hgvs_c": "n.1116C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_103528.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Benign",
"dbscsnv_ada_score": 0.0016135802033925,
"dbsnp": "rs201547692",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 0.00002851493,
"gene_hgnc_id": 20296,
"gene_symbol": "FNDC3A",
"gnomad_exomes_ac": 19,
"gnomad_exomes_af": 0.0000130053,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 27,
"gnomad_genomes_af": 0.000177338,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.737,
"pos": 49145779,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.114,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.04399999976158142,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001079673.2"
}
]
}