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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: 12-75042374-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=75042374&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP2",
"BS2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "KCNC2",
"hgnc_id": 6234,
"hgvs_c": "c.1781A>T",
"hgvs_p": "p.Asp594Val",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -3,
"transcript": "NM_139136.4",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000257434",
"hgnc_id": null,
"hgvs_c": "n.1635T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000547040.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BS2",
"acmg_score": -3,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.2396,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.08,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6079496741294861,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 613,
"aa_ref": "D",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 1802,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1781,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000548513.5",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.1781A>T",
"hgvs_p": "p.Asp594Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449941.1",
"strand": false,
"transcript": "ENST00000548513.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 638,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5596,
"cdna_start": null,
"cds_end": null,
"cds_length": 1917,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_139137.4",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.*731A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000549446.6",
"protein_coding": true,
"protein_id": "NP_631875.1",
"strand": false,
"transcript": "NM_139137.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 638,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5596,
"cdna_start": null,
"cds_end": null,
"cds_length": 1917,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000549446.6",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.*731A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_139137.4",
"protein_coding": true,
"protein_id": "ENSP00000449253.2",
"strand": false,
"transcript": "ENST00000549446.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 629,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2931,
"cdna_start": null,
"cds_end": null,
"cds_length": 1890,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000550433.5",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.1781-1168A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448301.1",
"strand": false,
"transcript": "ENST00000550433.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 613,
"aa_ref": "D",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3267,
"cdna_start": 1802,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1781,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001414195.1",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.1781A>T",
"hgvs_p": "p.Asp594Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401124.1",
"strand": false,
"transcript": "NM_001414195.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 613,
"aa_ref": "D",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3025,
"cdna_start": 1802,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1781,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001414196.1",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.1781A>T",
"hgvs_p": "p.Asp594Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401125.1",
"strand": false,
"transcript": "NM_001414196.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 613,
"aa_ref": "D",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3656,
"cdna_start": 2433,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1781,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_139136.4",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.1781A>T",
"hgvs_p": "p.Asp594Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_631874.1",
"strand": false,
"transcript": "NM_139136.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 613,
"aa_ref": "D",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3563,
"cdna_start": 2342,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1781,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000298972.5",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.1781A>T",
"hgvs_p": "p.Asp594Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000298972.1",
"strand": false,
"transcript": "ENST00000298972.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 558,
"aa_ref": "D",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3491,
"cdna_start": 2268,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1616,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_153748.3",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.1616A>T",
"hgvs_p": "p.Asp539Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_715624.1",
"strand": false,
"transcript": "NM_153748.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 558,
"aa_ref": "D",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": 2160,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1616,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000350228.6",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.1616A>T",
"hgvs_p": "p.Asp539Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319877.2",
"strand": false,
"transcript": "ENST00000350228.6",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 613,
"aa_ref": "D",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4098,
"cdna_start": 1802,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1781,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047428812.1",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.1781A>T",
"hgvs_p": "p.Asp594Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284768.1",
"strand": false,
"transcript": "XM_047428812.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 612,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4202,
"cdna_start": null,
"cds_end": null,
"cds_length": 1839,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_006719383.5",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.*46A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719446.1",
"strand": false,
"transcript": "XM_006719383.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 638,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4965,
"cdna_start": null,
"cds_end": null,
"cds_length": 1917,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001414192.1",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.*731A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401121.1",
"strand": false,
"transcript": "NM_001414192.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 638,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5336,
"cdna_start": null,
"cds_end": null,
"cds_length": 1917,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888265.1",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.*731A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558324.1",
"strand": false,
"transcript": "ENST00000888265.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 638,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5044,
"cdna_start": null,
"cds_end": null,
"cds_length": 1917,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962253.1",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.*731A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632312.1",
"strand": false,
"transcript": "ENST00000962253.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 625,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5557,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001414193.1",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.*731A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401122.1",
"strand": false,
"transcript": "NM_001414193.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 621,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5545,
"cdna_start": null,
"cds_end": null,
"cds_length": 1866,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001414194.1",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.*731A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401123.1",
"strand": false,
"transcript": "NM_001414194.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 618,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6168,
"cdna_start": null,
"cds_end": null,
"cds_length": 1857,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001260497.2",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.*1363A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001247426.1",
"strand": false,
"transcript": "NM_001260497.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 612,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6150,
"cdna_start": null,
"cds_end": null,
"cds_length": 1839,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001414197.1",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.*1363A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401126.1",
"strand": false,
"transcript": "NM_001414197.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 612,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5700,
"cdna_start": null,
"cds_end": null,
"cds_length": 1839,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001414202.1",
"gene_hgnc_id": 6234,
"gene_symbol": "KCNC2",
"hgvs_c": "c.*913A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401131.1",
"strand": false,
"transcript": "NM_001414202.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 612,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6272,
"cdna_start": null,
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