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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: 11-110233414-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=110233414&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "RDX",
"hgnc_id": 9944,
"hgvs_c": "c.1596C>T",
"hgvs_p": "p.Pro532Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_001440509.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "11",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 583,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4392,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1410,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_002906.4",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.1410C>T",
"hgvs_p": "p.Pro470Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000645495.2",
"protein_coding": true,
"protein_id": "NP_002897.1",
"strand": false,
"transcript": "NM_002906.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 583,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4392,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1410,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000645495.2",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.1410C>T",
"hgvs_p": "p.Pro470Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002906.4",
"protein_coding": true,
"protein_id": "ENSP00000496503.2",
"strand": false,
"transcript": "ENST00000645495.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 1720,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1410,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000528498.5",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.1410C>T",
"hgvs_p": "p.Pro470Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432112.1",
"strand": false,
"transcript": "ENST00000528498.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 257,
"aa_ref": "P",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1814,
"cdna_start": 773,
"cds_end": null,
"cds_length": 774,
"cds_start": 369,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000528900.5",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.369C>T",
"hgvs_p": "p.Pro123Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433580.1",
"strand": false,
"transcript": "ENST00000528900.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 200,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1549,
"cdna_start": null,
"cds_end": null,
"cds_length": 603,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000530301.5",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.405-1410C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436277.1",
"strand": false,
"transcript": "ENST00000530301.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3403,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000527537.5",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "n.639C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000527537.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3286,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000532461.5",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "n.525C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000532461.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 645,
"aa_ref": "P",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4578,
"cdna_start": 1808,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1596,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001440509.1",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.1596C>T",
"hgvs_p": "p.Pro532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427438.1",
"strand": false,
"transcript": "NM_001440509.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1410,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001260492.2",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.1410C>T",
"hgvs_p": "p.Pro470Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001247421.1",
"strand": false,
"transcript": "NM_001260492.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1410,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001260493.2",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.1410C>T",
"hgvs_p": "p.Pro470Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001247422.1",
"strand": false,
"transcript": "NM_001260493.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2605,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1410,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001440505.1",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.1410C>T",
"hgvs_p": "p.Pro470Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427434.1",
"strand": false,
"transcript": "NM_001440505.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1410,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001440506.1",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.1410C>T",
"hgvs_p": "p.Pro470Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427435.1",
"strand": false,
"transcript": "NM_001440506.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1410,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000647231.1",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.1410C>T",
"hgvs_p": "p.Pro470Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496414.1",
"strand": false,
"transcript": "ENST00000647231.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 593,
"aa_ref": "P",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2529,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1377,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001440510.1",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.1377C>T",
"hgvs_p": "p.Pro459Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427439.1",
"strand": false,
"transcript": "NM_001440510.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 593,
"aa_ref": "P",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2587,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1377,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001440511.1",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.1377C>T",
"hgvs_p": "p.Pro459Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427440.1",
"strand": false,
"transcript": "NM_001440511.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 590,
"aa_ref": "P",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4413,
"cdna_start": 1643,
"cds_end": null,
"cds_length": 1773,
"cds_start": 1431,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001440512.1",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.1431C>T",
"hgvs_p": "p.Pro477Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427441.1",
"strand": false,
"transcript": "NM_001440512.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 583,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4830,
"cdna_start": 2060,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1410,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001440507.1",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.1410C>T",
"hgvs_p": "p.Pro470Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427436.1",
"strand": false,
"transcript": "NM_001440507.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 583,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4600,
"cdna_start": 1830,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1410,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001440508.1",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.1410C>T",
"hgvs_p": "p.Pro470Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427437.1",
"strand": false,
"transcript": "NM_001440508.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 583,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4821,
"cdna_start": 2060,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1410,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000914232.1",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.1410C>T",
"hgvs_p": "p.Pro470Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584291.1",
"strand": false,
"transcript": "ENST00000914232.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 572,
"aa_ref": "P",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4316,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1377,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001440513.1",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.1377C>T",
"hgvs_p": "p.Pro459Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427442.1",
"strand": false,
"transcript": "NM_001440513.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 572,
"aa_ref": "P",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4754,
"cdna_start": 1984,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1377,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001440514.1",
"gene_hgnc_id": 9944,
"gene_symbol": "RDX",
"hgvs_c": "c.1377C>T",
"hgvs_p": "p.Pro459Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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