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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: 7-5528657-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5528657&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 18,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ACTB",
"hgnc_id": 132,
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Leu142Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -18,
"transcript": "NM_001101.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS1,BS2",
"acmg_score": -18,
"allele_count_reference_population": 8941,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "7",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "ACTB-related disorder,Baraitser-Winter syndrome 1,Developmental malformations-deafness-dystonia syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3499999940395355,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "L",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": 510,
"cds_end": null,
"cds_length": 1128,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001101.5",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Leu142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000646664.1",
"protein_coding": true,
"protein_id": "NP_001092.1",
"strand": false,
"transcript": "NM_001101.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "L",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": 510,
"cds_end": null,
"cds_length": 1128,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000646664.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Leu142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001101.5",
"protein_coding": true,
"protein_id": "ENSP00000494750.1",
"strand": false,
"transcript": "ENST00000646664.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000425660.5",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "n.*89G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000409264.1",
"strand": false,
"transcript": "ENST00000425660.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000425660.5",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "n.*89G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000409264.1",
"strand": false,
"transcript": "ENST00000425660.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "L",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1495,
"cdna_start": 581,
"cds_end": null,
"cds_length": 1128,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000493945.6",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Leu142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494269.1",
"strand": false,
"transcript": "ENST00000493945.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "L",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2021,
"cdna_start": 718,
"cds_end": null,
"cds_length": 1128,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000642480.2",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Leu142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495995.2",
"strand": false,
"transcript": "ENST00000642480.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "L",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2554,
"cdna_start": 513,
"cds_end": null,
"cds_length": 1128,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000674681.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Leu142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502821.1",
"strand": false,
"transcript": "ENST00000674681.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "L",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 621,
"cds_end": null,
"cds_length": 1128,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000675515.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Leu142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501862.1",
"strand": false,
"transcript": "ENST00000675515.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "L",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 516,
"cds_end": null,
"cds_length": 1128,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899420.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Leu142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569479.1",
"strand": false,
"transcript": "ENST00000899420.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "L",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 531,
"cds_end": null,
"cds_length": 1128,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899421.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Leu142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569480.1",
"strand": false,
"transcript": "ENST00000899421.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "L",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1858,
"cdna_start": 559,
"cds_end": null,
"cds_length": 1128,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899425.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Leu142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569484.1",
"strand": false,
"transcript": "ENST00000899425.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "L",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1811,
"cdna_start": 512,
"cds_end": null,
"cds_length": 1128,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899429.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Leu142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569488.1",
"strand": false,
"transcript": "ENST00000899429.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "L",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 514,
"cds_end": null,
"cds_length": 1128,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000919306.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Leu142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589365.1",
"strand": false,
"transcript": "ENST00000919306.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "L",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1975,
"cdna_start": 685,
"cds_end": null,
"cds_length": 1128,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000950579.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Leu142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620638.1",
"strand": false,
"transcript": "ENST00000950579.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 371,
"aa_ref": "L",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1801,
"cdna_start": 498,
"cds_end": null,
"cds_length": 1116,
"cds_start": 414,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000919299.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.414G>T",
"hgvs_p": "p.Leu138Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589358.1",
"strand": false,
"transcript": "ENST00000919299.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 369,
"aa_ref": "L",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 510,
"cds_end": null,
"cds_length": 1110,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000919301.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Leu142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589360.1",
"strand": false,
"transcript": "ENST00000919301.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 367,
"aa_ref": "L",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 486,
"cds_end": null,
"cds_length": 1104,
"cds_start": 402,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899427.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.402G>T",
"hgvs_p": "p.Leu134Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569486.1",
"strand": false,
"transcript": "ENST00000899427.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 366,
"aa_ref": "L",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 483,
"cds_end": null,
"cds_length": 1101,
"cds_start": 399,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899424.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.399G>T",
"hgvs_p": "p.Leu133Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569483.1",
"strand": false,
"transcript": "ENST00000899424.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 348,
"aa_ref": "L",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 429,
"cds_end": null,
"cds_length": 1047,
"cds_start": 345,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899422.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Leu115Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569481.1",
"strand": false,
"transcript": "ENST00000899422.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 345,
"aa_ref": "L",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 507,
"cds_end": null,
"cds_length": 1038,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899426.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Leu142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569485.1",
"strand": false,
"transcript": "ENST00000899426.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 344,
"aa_ref": "L",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 510,
"cds_end": null,
"cds_length": 1035,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000919300.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.426G>T",
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