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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: 19-44909101-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44909101&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP2",
"PP3",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "APOE",
"hgnc_id": 613,
"hgvs_c": "c.883C>G",
"hgvs_p": "p.Arg295Gly",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001302688.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,PP3,BS1",
"acmg_score": -2,
"allele_count_reference_population": 1036,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.16,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "7 conditions,APOE-related disorder,Alzheimer disease 2,Cardiovascular phenotype,Familial type 3 hyperlipoproteinemia,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:7",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7716227769851685,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1166,
"cdna_start": 874,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000041.4",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000252486.9",
"protein_coding": true,
"protein_id": "NP_000032.1",
"strand": true,
"transcript": "NM_000041.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1166,
"cdna_start": 874,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000252486.9",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000041.4",
"protein_coding": true,
"protein_id": "ENSP00000252486.3",
"strand": true,
"transcript": "ENST00000252486.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 343,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": 956,
"cds_end": null,
"cds_length": 1032,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001302688.2",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.883C>G",
"hgvs_p": "p.Arg295Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289617.1",
"strand": true,
"transcript": "NM_001302688.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 335,
"aa_ref": "R",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1219,
"cdna_start": 928,
"cds_end": null,
"cds_length": 1008,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000864831.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.859C>G",
"hgvs_p": "p.Arg287Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534890.1",
"strand": true,
"transcript": "ENST00000864831.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 334,
"aa_ref": "R",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1216,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1005,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000864832.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.856C>G",
"hgvs_p": "p.Arg286Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534891.1",
"strand": true,
"transcript": "ENST00000864832.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1144,
"cdna_start": 852,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001302689.2",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289618.1",
"strand": true,
"transcript": "NM_001302689.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1244,
"cdna_start": 952,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001302690.2",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289619.1",
"strand": true,
"transcript": "NM_001302690.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1181,
"cdna_start": 889,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001302691.2",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289620.1",
"strand": true,
"transcript": "NM_001302691.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1267,
"cdna_start": 976,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864817.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534877.1",
"strand": true,
"transcript": "ENST00000864817.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1198,
"cdna_start": 907,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864820.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534879.1",
"strand": true,
"transcript": "ENST00000864820.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1612,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000864822.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534881.1",
"strand": true,
"transcript": "ENST00000864822.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1142,
"cdna_start": 852,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864826.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534885.1",
"strand": true,
"transcript": "ENST00000864826.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1266,
"cdna_start": 974,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864828.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534887.1",
"strand": true,
"transcript": "ENST00000864828.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1147,
"cdna_start": 853,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864829.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534888.1",
"strand": true,
"transcript": "ENST00000864829.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1150,
"cdna_start": 859,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864834.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534893.1",
"strand": true,
"transcript": "ENST00000864834.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1281,
"cdna_start": 990,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000864835.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534894.1",
"strand": true,
"transcript": "ENST00000864835.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1323,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864836.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534895.1",
"strand": true,
"transcript": "ENST00000864836.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1283,
"cdna_start": 988,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864837.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534896.1",
"strand": true,
"transcript": "ENST00000864837.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1183,
"cdna_start": 891,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864838.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534897.1",
"strand": true,
"transcript": "ENST00000864838.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1266,
"cdna_start": 973,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864839.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534898.1",
"strand": true,
"transcript": "ENST00000864839.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1152,
"cdna_start": 861,
"cds_end": null,
"cds_length": 954,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864840.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"intron_rank": null,
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