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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: 4-128121988-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=128121988&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LARP1B",
"hgnc_id": 24704,
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_018078.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8629,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.28,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Prostate cancer",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7981137037277222,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4847,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_018078.4",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000326639.11",
"protein_coding": true,
"protein_id": "NP_060548.2",
"strand": true,
"transcript": "NM_018078.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4847,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000326639.11",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018078.4",
"protein_coding": true,
"protein_id": "ENSP00000321997.6",
"strand": true,
"transcript": "ENST00000326639.11",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 518,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000512292.5",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422850.1",
"strand": true,
"transcript": "ENST00000512292.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 918,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2896,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 2757,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000899921.1",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569980.1",
"strand": true,
"transcript": "ENST00000899921.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4828,
"cdna_start": 2329,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000649983.2",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497192.2",
"strand": true,
"transcript": "ENST00000649983.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 902,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5158,
"cdna_start": 1838,
"cds_end": null,
"cds_length": 2709,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001410786.1",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397715.1",
"strand": true,
"transcript": "NM_001410786.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 902,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3976,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 2709,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000704292.1",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515817.1",
"strand": true,
"transcript": "ENST00000704292.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 902,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 2709,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000899913.1",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569972.1",
"strand": true,
"transcript": "ENST00000899913.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 902,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": 1509,
"cds_end": null,
"cds_length": 2709,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000899919.1",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569978.1",
"strand": true,
"transcript": "ENST00000899919.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 902,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3924,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 2709,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000899920.1",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569979.1",
"strand": true,
"transcript": "ENST00000899920.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 900,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4254,
"cdna_start": 1797,
"cds_end": null,
"cds_length": 2703,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000917669.1",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587728.1",
"strand": true,
"transcript": "ENST00000917669.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 888,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4620,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000899915.1",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569974.1",
"strand": true,
"transcript": "ENST00000899915.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 887,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3910,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000899916.1",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569975.1",
"strand": true,
"transcript": "ENST00000899916.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 875,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4736,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 2628,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000899914.1",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569973.1",
"strand": true,
"transcript": "ENST00000899914.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 875,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5421,
"cdna_start": 2331,
"cds_end": null,
"cds_length": 2628,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000952429.1",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622488.1",
"strand": true,
"transcript": "ENST00000952429.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 871,
"aa_ref": "D",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3855,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 2616,
"cds_start": 1183,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000899917.1",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Asp395Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569976.1",
"strand": true,
"transcript": "ENST00000899917.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 840,
"aa_ref": "D",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5304,
"cdna_start": 2166,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1183,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000917667.1",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Asp395Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587726.1",
"strand": true,
"transcript": "ENST00000917667.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 790,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3611,
"cdna_start": 1484,
"cds_end": null,
"cds_length": 2373,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000899918.1",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569977.1",
"strand": true,
"transcript": "ENST00000899918.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 790,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3956,
"cdna_start": 1826,
"cds_end": null,
"cds_length": 2373,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000917668.1",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587727.1",
"strand": true,
"transcript": "ENST00000917668.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 788,
"aa_ref": "D",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3636,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000952430.1",
"gene_hgnc_id": 24704,
"gene_symbol": "LARP1B",
"hgvs_c": "c.1324G>T",
"hgvs_p": "p.Asp442Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622489.1",
"strand": true,
"transcript": "ENST00000952430.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 634,
"aa_ref": "D",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4423,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1905,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
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