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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: 21-45941694-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=45941694&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PCBP3",
"hgnc_id": 8651,
"hgvs_c": "c.1173G>A",
"hgvs_p": "p.Met391Ile",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001348240.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 33,
"alphamissense_prediction": null,
"alphamissense_score": 0.3213,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.02,
"chr": "21",
"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": 0.11242425441741943,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 371,
"aa_ref": "M",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": 1526,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1104,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001384156.1",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Met368Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000681687.1",
"protein_coding": true,
"protein_id": "NP_001371085.1",
"strand": true,
"transcript": "NM_001384156.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 371,
"aa_ref": "M",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": 1526,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1104,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000681687.1",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Met368Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001384156.1",
"protein_coding": true,
"protein_id": "ENSP00000505796.1",
"strand": true,
"transcript": "ENST00000681687.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 361,
"aa_ref": "M",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1086,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1086,
"cds_start": 1074,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000400304.1",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1074G>A",
"hgvs_p": "p.Met358Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383159.1",
"strand": true,
"transcript": "ENST00000400304.1",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 345,
"aa_ref": "M",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1911,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1038,
"cds_start": 1026,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000400308.5",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1026G>A",
"hgvs_p": "p.Met342Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383163.1",
"strand": true,
"transcript": "ENST00000400308.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 394,
"aa_ref": "M",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": 1516,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1173,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001348240.2",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1173G>A",
"hgvs_p": "p.Met391Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335169.1",
"strand": true,
"transcript": "NM_001348240.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 394,
"aa_ref": "M",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1173,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001382279.1",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1173G>A",
"hgvs_p": "p.Met391Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369208.1",
"strand": true,
"transcript": "NM_001382279.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 393,
"aa_ref": "M",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2348,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1170,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001348239.2",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Met390Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335168.1",
"strand": true,
"transcript": "NM_001348239.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 382,
"aa_ref": "M",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1149,
"cds_start": 1137,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001348241.2",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1137G>A",
"hgvs_p": "p.Met379Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335170.1",
"strand": true,
"transcript": "NM_001348241.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 373,
"aa_ref": "M",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 1487,
"cds_end": null,
"cds_length": 1122,
"cds_start": 1110,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001348245.2",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1110G>A",
"hgvs_p": "p.Met370Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335174.1",
"strand": true,
"transcript": "NM_001348245.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 371,
"aa_ref": "M",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2206,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1104,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001382277.1",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Met368Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369206.1",
"strand": true,
"transcript": "NM_001382277.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 371,
"aa_ref": "M",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1104,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001382281.1",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Met368Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369210.1",
"strand": true,
"transcript": "NM_001382281.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 371,
"aa_ref": "M",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2208,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1104,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001382282.1",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Met368Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369211.1",
"strand": true,
"transcript": "NM_001382282.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 371,
"aa_ref": "M",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2244,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1104,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001382283.1",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Met368Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369212.1",
"strand": true,
"transcript": "NM_001382283.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 371,
"aa_ref": "M",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": 1606,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1104,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001382284.1",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Met368Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369213.1",
"strand": true,
"transcript": "NM_001382284.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 371,
"aa_ref": "M",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2246,
"cdna_start": 1490,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1104,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001382285.1",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Met368Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369214.1",
"strand": true,
"transcript": "NM_001382285.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 371,
"aa_ref": "M",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2326,
"cdna_start": 1570,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1104,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001382286.1",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Met368Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369215.1",
"strand": true,
"transcript": "NM_001382286.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 371,
"aa_ref": "M",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1104,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001382287.1",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Met368Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369216.1",
"strand": true,
"transcript": "NM_001382287.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 371,
"aa_ref": "M",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2203,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1104,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001382288.1",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Met368Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369217.1",
"strand": true,
"transcript": "NM_001382288.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 371,
"aa_ref": "M",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2237,
"cdna_start": 1481,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1104,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_020528.3",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Met368Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065389.2",
"strand": true,
"transcript": "NM_020528.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 371,
"aa_ref": "M",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2202,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1104,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000400314.5",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Met368Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383168.1",
"strand": true,
"transcript": "ENST00000400314.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 370,
"aa_ref": "M",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 1485,
"cds_end": null,
"cds_length": 1113,
"cds_start": 1101,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001348238.2",
"gene_hgnc_id": 8651,
"gene_symbol": "PCBP3",
"hgvs_c": "c.1101G>A",
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]
}