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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: 1-119386650-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=119386650&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 119386650,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001005783.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Thr197Ile",
"transcript": "NM_016527.4",
"protein_id": "NP_057611.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 351,
"cds_start": 590,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325945.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016527.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Thr197Ile",
"transcript": "ENST00000325945.4",
"protein_id": "ENSP00000316339.3",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 351,
"cds_start": 590,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016527.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325945.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Thr210Ile",
"transcript": "ENST00000361035.8",
"protein_id": "ENSP00000354314.4",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 364,
"cds_start": 629,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361035.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Thr197Ile",
"transcript": "ENST00000622548.4",
"protein_id": "ENSP00000483507.1",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 351,
"cds_start": 590,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622548.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Thr211Ile",
"transcript": "ENST00000864558.1",
"protein_id": "ENSP00000534617.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 365,
"cds_start": 632,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864558.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Thr210Ile",
"transcript": "NM_001005783.3",
"protein_id": "NP_001005783.2",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 364,
"cds_start": 629,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005783.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Thr197Ile",
"transcript": "ENST00000864537.1",
"protein_id": "ENSP00000534596.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 352,
"cds_start": 590,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864537.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Thr197Ile",
"transcript": "ENST00000864544.1",
"protein_id": "ENSP00000534603.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 352,
"cds_start": 590,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864544.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Thr197Ile",
"transcript": "ENST00000864538.1",
"protein_id": "ENSP00000534597.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 351,
"cds_start": 590,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864538.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Thr197Ile",
"transcript": "ENST00000864545.1",
"protein_id": "ENSP00000534604.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 351,
"cds_start": 590,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864545.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Thr197Ile",
"transcript": "ENST00000864549.1",
"protein_id": "ENSP00000534608.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 351,
"cds_start": 590,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864549.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Thr197Ile",
"transcript": "ENST00000864550.1",
"protein_id": "ENSP00000534609.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 351,
"cds_start": 590,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864550.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Thr197Ile",
"transcript": "ENST00000864561.1",
"protein_id": "ENSP00000534620.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 351,
"cds_start": 590,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864561.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Thr197Ile",
"transcript": "ENST00000864542.1",
"protein_id": "ENSP00000534601.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 347,
"cds_start": 590,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864542.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Ile",
"transcript": "ENST00000864555.1",
"protein_id": "ENSP00000534614.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864555.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Ile",
"transcript": "ENST00000864551.1",
"protein_id": "ENSP00000534610.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 327,
"cds_start": 515,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864551.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Ile",
"transcript": "ENST00000864532.1",
"protein_id": "ENSP00000534591.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 326,
"cds_start": 515,
"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": "ENST00000864532.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Ile",
"transcript": "ENST00000864547.1",
"protein_id": "ENSP00000534606.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 326,
"cds_start": 515,
"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": "ENST00000864547.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Ile",
"transcript": "ENST00000864552.1",
"protein_id": "ENSP00000534611.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 326,
"cds_start": 515,
"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": "ENST00000864552.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Ile",
"transcript": "ENST00000864560.1",
"protein_id": "ENSP00000534619.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 322,
"cds_start": 515,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864560.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Thr163Ile",
"transcript": "ENST00000864553.1",
"protein_id": "ENSP00000534612.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 317,
"cds_start": 488,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864553.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAO2",
"gene_hgnc_id": 4810,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Ile",
"transcript": "ENST00000457318.5",
"protein_id": "ENSP00000393955.1",
"transcript_support_level": 3,
"aa_start": 172,
"aa_end": null,
"aa_length": 185,
"cds_start": 515,
"cds_end": null,
"cds_length": 559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001005783.3",
"gene_symbol": "HAO2",
"hgnc_id": 4810,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Thr210Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}