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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: 18-57691850-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=57691850&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 57691850,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000648908.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ile393Val",
"transcript": "NM_001374385.1",
"protein_id": "NP_001361314.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1177,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 6161,
"mane_select": "ENST00000648908.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ile393Val",
"transcript": "ENST00000648908.2",
"protein_id": "ENSP00000497896.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1177,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 6161,
"mane_select": "NM_001374385.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ile393Val",
"transcript": "NM_005603.6",
"protein_id": "NP_005594.2",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1177,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 6158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1027A>G",
"hgvs_p": "p.Ile343Val",
"transcript": "NM_001374386.1",
"protein_id": "NP_001361315.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 1201,
"cds_start": 1027,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 6063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ile393Val",
"transcript": "XM_047437541.1",
"protein_id": "XP_047293497.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1177,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ile393Val",
"transcript": "XM_047437542.1",
"protein_id": "XP_047293498.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1177,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 5924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ile393Val",
"transcript": "XM_047437543.1",
"protein_id": "XP_047293499.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1177,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ile393Val",
"transcript": "XM_047437544.1",
"protein_id": "XP_047293500.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1177,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 5953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ile393Val",
"transcript": "XM_047437545.1",
"protein_id": "XP_047293501.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1177,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 5990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ile393Val",
"transcript": "XM_047437546.1",
"protein_id": "XP_047293502.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1177,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1063A>G",
"hgvs_p": "p.Ile355Val",
"transcript": "XM_011526023.4",
"protein_id": "XP_011524325.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1213,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 6047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1063A>G",
"hgvs_p": "p.Ile355Val",
"transcript": "XM_047437547.1",
"protein_id": "XP_047293503.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1213,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 6044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1063A>G",
"hgvs_p": "p.Ile355Val",
"transcript": "XM_047437548.1",
"protein_id": "XP_047293504.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1213,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 5836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "n.1177A>G",
"hgvs_p": null,
"transcript": "ENST00000642462.1",
"protein_id": "ENSP00000494712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "n.1177A>G",
"hgvs_p": null,
"transcript": "ENST00000648039.1",
"protein_id": "ENSP00000497863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "n.1009A>G",
"hgvs_p": null,
"transcript": "ENST00000648467.1",
"protein_id": "ENSP00000496933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP8B1-AS1",
"gene_hgnc_id": 56042,
"hgvs_c": "n.571-39564T>C",
"hgvs_p": null,
"transcript": "ENST00000588925.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP8B1-AS1",
"gene_hgnc_id": 56042,
"hgvs_c": "n.309-46683T>C",
"hgvs_p": null,
"transcript": "ENST00000794640.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP8B1-AS1",
"gene_hgnc_id": 56042,
"hgvs_c": "n.311-43301T>C",
"hgvs_p": null,
"transcript": "ENST00000794776.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP8B1-AS1",
"gene_hgnc_id": 56042,
"hgvs_c": "n.371-4095T>C",
"hgvs_p": null,
"transcript": "ENST00000794777.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP8B1-AS1",
"gene_hgnc_id": 56042,
"hgvs_c": "n.683-39564T>C",
"hgvs_p": null,
"transcript": "ENST00000794778.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"dbsnp": "rs34315917",
"frequency_reference_population": 0.005126013,
"hom_count_reference_population": 27,
"allele_count_reference_population": 8274,
"gnomad_exomes_af": 0.00526527,
"gnomad_genomes_af": 0.00378917,
"gnomad_exomes_ac": 7697,
"gnomad_genomes_ac": 577,
"gnomad_exomes_homalt": 25,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010709911584854126,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.434,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1012,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.85,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000648908.2",
"gene_symbol": "ATP8B1",
"hgnc_id": 3706,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ile393Val"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000588925.5",
"gene_symbol": "ATP8B1-AS1",
"hgnc_id": 56042,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.571-39564T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Progressive familial intrahepatic cholestasis type 1,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:4 B:4",
"phenotype_combined": "not specified|Progressive familial intrahepatic cholestasis type 1|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}