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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: 20-63413556-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63413556&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "KCNQ2",
"hgnc_id": 6296,
"hgvs_c": "c.1603C>A",
"hgvs_p": "p.Arg535Arg",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001382235.1",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "LOC105372724",
"hgnc_id": null,
"hgvs_c": "n.*206G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "XR_937002.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.38999998569488525,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 872,
"aa_ref": "R",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9247,
"cdna_start": 1849,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1657,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_172107.4",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1657C>A",
"hgvs_p": "p.Arg553Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359125.7",
"protein_coding": true,
"protein_id": "NP_742105.1",
"strand": false,
"transcript": "NM_172107.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 872,
"aa_ref": "R",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9247,
"cdna_start": 1849,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1657,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000359125.7",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1657C>A",
"hgvs_p": "p.Arg553Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_172107.4",
"protein_coding": true,
"protein_id": "ENSP00000352035.2",
"strand": false,
"transcript": "ENST00000359125.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 854,
"aa_ref": "R",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9213,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 2565,
"cds_start": 1603,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000626839.2",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1603C>A",
"hgvs_p": "p.Arg535Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486706.1",
"strand": false,
"transcript": "ENST00000626839.2",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 841,
"aa_ref": "R",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2750,
"cdna_start": 1610,
"cds_end": null,
"cds_length": 2526,
"cds_start": 1564,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000344462.8",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1564C>A",
"hgvs_p": "p.Arg522Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339611.4",
"strand": false,
"transcript": "ENST00000344462.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 890,
"aa_ref": "R",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9301,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1603,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001382235.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1603C>A",
"hgvs_p": "p.Arg535Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369164.1",
"strand": false,
"transcript": "NM_001382235.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 890,
"aa_ref": "R",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9301,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1603,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000706989.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1603C>A",
"hgvs_p": "p.Arg535Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516702.1",
"strand": false,
"transcript": "ENST00000706989.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3338,
"cdna_start": 1758,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1600,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000852160.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1600C>A",
"hgvs_p": "p.Arg534Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522219.1",
"strand": false,
"transcript": "ENST00000852160.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9209,
"cdna_start": 1769,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1573,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000921679.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1573C>A",
"hgvs_p": "p.Arg525Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591738.1",
"strand": false,
"transcript": "ENST00000921679.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 854,
"aa_ref": "R",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9193,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 2565,
"cds_start": 1603,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_172106.3",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1603C>A",
"hgvs_p": "p.Arg535Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_742104.1",
"strand": false,
"transcript": "NM_172106.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 853,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9190,
"cdna_start": 1792,
"cds_end": null,
"cds_length": 2562,
"cds_start": 1600,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001439003.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1600C>A",
"hgvs_p": "p.Arg534Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425932.1",
"strand": false,
"transcript": "NM_001439003.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 853,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3362,
"cdna_start": 1797,
"cds_end": null,
"cds_length": 2562,
"cds_start": 1600,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000852159.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1600C>A",
"hgvs_p": "p.Arg534Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522218.1",
"strand": false,
"transcript": "ENST00000852159.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 844,
"aa_ref": "R",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9163,
"cdna_start": 1765,
"cds_end": null,
"cds_length": 2535,
"cds_start": 1573,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_004518.6",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1573C>A",
"hgvs_p": "p.Arg525Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004509.2",
"strand": false,
"transcript": "NM_004518.6",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 844,
"aa_ref": "R",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2775,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 2535,
"cds_start": 1573,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000360480.7",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1573C>A",
"hgvs_p": "p.Arg525Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353668.3",
"strand": false,
"transcript": "ENST00000360480.7",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 843,
"aa_ref": "R",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9160,
"cdna_start": 1762,
"cds_end": null,
"cds_length": 2532,
"cds_start": 1570,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001439004.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1570C>A",
"hgvs_p": "p.Arg524Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425933.1",
"strand": false,
"transcript": "NM_001439004.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 843,
"aa_ref": "R",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9160,
"cdna_start": 1762,
"cds_end": null,
"cds_length": 2532,
"cds_start": 1570,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000627221.3",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1570C>A",
"hgvs_p": "p.Arg524Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487469.2",
"strand": false,
"transcript": "ENST00000627221.3",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 841,
"aa_ref": "R",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9154,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 2526,
"cds_start": 1564,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_172108.5",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1564C>A",
"hgvs_p": "p.Arg522Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_742106.1",
"strand": false,
"transcript": "NM_172108.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 832,
"aa_ref": "R",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3296,
"cdna_start": 1729,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1537,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000713605.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1537C>A",
"hgvs_p": "p.Arg513Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518901.1",
"strand": false,
"transcript": "ENST00000713605.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 802,
"aa_ref": "R",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1447,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000921680.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1447C>A",
"hgvs_p": "p.Arg483Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591739.1",
"strand": false,
"transcript": "ENST00000921680.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 766,
"aa_ref": "R",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 1708,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1573,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000370224.5",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1573C>A",
"hgvs_p": "p.Arg525Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359244.2",
"strand": false,
"transcript": "ENST00000370224.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 754,
"aa_ref": "R",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2925,
"cdna_start": 1629,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1537,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000625514.2",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1537C>A",
"hgvs_p": "p.Arg513Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486040.1",
"strand": false,
"transcript": "ENST00000625514.2",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 730,
"aa_ref": "R",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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