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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: 11-64224697-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64224697&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TRPT1",
"hgnc_id": 20316,
"hgvs_c": "c.354G>A",
"hgvs_p": "p.Met118Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001160389.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1544,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"chr": "11",
"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": 0.05034962296485901,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 253,
"aa_ref": "M",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 968,
"cdna_start": 494,
"cds_end": null,
"cds_length": 762,
"cds_start": 348,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001033678.4",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Met116Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000317459.11",
"protein_coding": true,
"protein_id": "NP_001028850.2",
"strand": false,
"transcript": "NM_001033678.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 253,
"aa_ref": "M",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 968,
"cdna_start": 494,
"cds_end": null,
"cds_length": 762,
"cds_start": 348,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000317459.11",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Met116Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001033678.4",
"protein_coding": true,
"protein_id": "ENSP00000314073.6",
"strand": false,
"transcript": "ENST00000317459.11",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 204,
"aa_ref": "M",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 865,
"cdna_start": 374,
"cds_end": null,
"cds_length": 615,
"cds_start": 201,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000394547.7",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Met67Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378051.3",
"strand": false,
"transcript": "ENST00000394547.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 138,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 719,
"cdna_start": 228,
"cds_end": null,
"cds_length": 417,
"cds_start": 3,
"consequences": [
"start_lost"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047427682.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283638.1",
"strand": false,
"transcript": "XM_047427682.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 255,
"aa_ref": "M",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 974,
"cdna_start": 500,
"cds_end": null,
"cds_length": 768,
"cds_start": 354,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001160389.2",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.354G>A",
"hgvs_p": "p.Met118Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153861.1",
"strand": false,
"transcript": "NM_001160389.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 255,
"aa_ref": "M",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1058,
"cdna_start": 568,
"cds_end": null,
"cds_length": 768,
"cds_start": 354,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000394546.6",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.354G>A",
"hgvs_p": "p.Met118Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378050.2",
"strand": false,
"transcript": "ENST00000394546.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 255,
"aa_ref": "M",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 901,
"cdna_start": 475,
"cds_end": null,
"cds_length": 768,
"cds_start": 354,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877505.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.354G>A",
"hgvs_p": "p.Met118Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547564.1",
"strand": false,
"transcript": "ENST00000877505.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 254,
"aa_ref": "M",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 851,
"cdna_start": 357,
"cds_end": null,
"cds_length": 765,
"cds_start": 348,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001160393.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Met116Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153865.1",
"strand": false,
"transcript": "NM_001160393.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 254,
"aa_ref": "M",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1440,
"cdna_start": 980,
"cds_end": null,
"cds_length": 765,
"cds_start": 348,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877500.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Met116Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547559.1",
"strand": false,
"transcript": "ENST00000877500.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 254,
"aa_ref": "M",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1013,
"cdna_start": 520,
"cds_end": null,
"cds_length": 765,
"cds_start": 348,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877501.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Met116Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547560.1",
"strand": false,
"transcript": "ENST00000877501.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 254,
"aa_ref": "M",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 947,
"cdna_start": 470,
"cds_end": null,
"cds_length": 765,
"cds_start": 348,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935368.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Met116Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605427.1",
"strand": false,
"transcript": "ENST00000935368.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 254,
"aa_ref": "M",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1050,
"cdna_start": 606,
"cds_end": null,
"cds_length": 765,
"cds_start": 348,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962781.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Met116Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632840.1",
"strand": false,
"transcript": "ENST00000962781.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 253,
"aa_ref": "M",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 956,
"cdna_start": 482,
"cds_end": null,
"cds_length": 762,
"cds_start": 348,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001160390.2",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Met116Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153862.1",
"strand": false,
"transcript": "NM_001160390.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 253,
"aa_ref": "M",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1574,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 762,
"cds_start": 348,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877499.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Met116Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547558.1",
"strand": false,
"transcript": "ENST00000877499.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 253,
"aa_ref": "M",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 958,
"cdna_start": 521,
"cds_end": null,
"cds_length": 762,
"cds_start": 348,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000877507.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Met116Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547566.1",
"strand": false,
"transcript": "ENST00000877507.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 253,
"aa_ref": "M",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 924,
"cdna_start": 433,
"cds_end": null,
"cds_length": 762,
"cds_start": 348,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935365.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Met116Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605424.1",
"strand": false,
"transcript": "ENST00000935365.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 253,
"aa_ref": "M",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1061,
"cdna_start": 620,
"cds_end": null,
"cds_length": 762,
"cds_start": 348,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962780.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Met116Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632839.1",
"strand": false,
"transcript": "ENST00000962780.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 252,
"aa_ref": "M",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 961,
"cdna_start": 516,
"cds_end": null,
"cds_length": 759,
"cds_start": 348,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962782.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Met116Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632841.1",
"strand": false,
"transcript": "ENST00000962782.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 250,
"aa_ref": "M",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 951,
"cdna_start": 513,
"cds_end": null,
"cds_length": 753,
"cds_start": 348,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962783.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Met116Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632842.1",
"strand": false,
"transcript": "ENST00000962783.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 249,
"aa_ref": "M",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 956,
"cdna_start": 494,
"cds_end": null,
"cds_length": 750,
"cds_start": 348,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877503.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Met116Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547562.1",
"strand": false,
"transcript": "ENST00000877503.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 249,
"aa_ref": "M",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 897,
"cdna_start": 449,
"cds_end": null,
"cds_length": 750,
"cds_start": 348,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935371.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Met116Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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