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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: 12-48775479-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=48775479&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ADCY6",
"hgnc_id": 237,
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_015270.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 207002,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "12",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7900000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6092,
"cdna_start": null,
"cds_end": null,
"cds_length": 3507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015270.5",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357869.8",
"protein_coding": true,
"protein_id": "NP_056085.1",
"strand": false,
"transcript": "NM_015270.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6092,
"cdna_start": null,
"cds_end": null,
"cds_length": 3507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000357869.8",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015270.5",
"protein_coding": true,
"protein_id": "ENSP00000350536.4",
"strand": false,
"transcript": "ENST00000357869.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6464,
"cdna_start": null,
"cds_end": null,
"cds_length": 3507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000307885.4",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311405.4",
"strand": false,
"transcript": "ENST00000307885.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1195,
"aa_ref": "T",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6140,
"cdna_start": 2044,
"cds_end": null,
"cds_length": 3588,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000960700.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1885A>T",
"hgvs_p": "p.Thr629Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630759.1",
"strand": false,
"transcript": "ENST00000960700.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "T",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5949,
"cdna_start": 2012,
"cds_end": null,
"cds_length": 3429,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000960706.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1885A>T",
"hgvs_p": "p.Thr629Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630765.1",
"strand": false,
"transcript": "ENST00000960706.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6708,
"cdna_start": null,
"cds_end": null,
"cds_length": 3507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001390831.2",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001377760.1",
"strand": false,
"transcript": "NM_001390831.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6021,
"cdna_start": null,
"cds_end": null,
"cds_length": 3507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412819.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399748.1",
"strand": false,
"transcript": "NM_001412819.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5962,
"cdna_start": null,
"cds_end": null,
"cds_length": 3507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412820.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399749.1",
"strand": false,
"transcript": "NM_001412820.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5970,
"cdna_start": null,
"cds_end": null,
"cds_length": 3507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412821.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399750.1",
"strand": false,
"transcript": "NM_001412821.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6001,
"cdna_start": null,
"cds_end": null,
"cds_length": 3507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412822.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399751.1",
"strand": false,
"transcript": "NM_001412822.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6082,
"cdna_start": null,
"cds_end": null,
"cds_length": 3507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873895.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543954.1",
"strand": false,
"transcript": "ENST00000873895.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5953,
"cdna_start": null,
"cds_end": null,
"cds_length": 3507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911287.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581346.1",
"strand": false,
"transcript": "ENST00000911287.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6128,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960699.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630758.1",
"strand": false,
"transcript": "ENST00000960699.1",
"transcript_support_level": null
},
{
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"aa_end": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6035,
"cdna_start": null,
"cds_end": null,
"cds_length": 3507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960708.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630767.1",
"strand": false,
"transcript": "ENST00000960708.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5955,
"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960709.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630768.1",
"strand": false,
"transcript": "ENST00000960709.1",
"transcript_support_level": null
},
{
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"aa_end": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5946,
"cdna_start": null,
"cds_end": null,
"cds_length": 3495,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960707.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630766.1",
"strand": false,
"transcript": "ENST00000960707.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1150,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5991,
"cdna_start": null,
"cds_end": null,
"cds_length": 3453,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960703.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1779-29A>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630762.1",
"strand": false,
"transcript": "ENST00000960703.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5988,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960698.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-104A>T",
"hgvs_p": null,
"intron_rank": 10,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630757.1",
"strand": false,
"transcript": "ENST00000960698.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"canonical": false,
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"cdna_length": 5928,
"cdna_start": null,
"cds_end": null,
"cds_length": 3390,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960704.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"intron_rank": 10,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630763.1",
"strand": false,
"transcript": "ENST00000960704.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5933,
"cdna_start": null,
"cds_end": null,
"cds_length": 3348,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001390830.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001377759.1",
"strand": false,
"transcript": "NM_001390830.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1115,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5877,
"cdna_start": null,
"cds_end": null,
"cds_length": 3348,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000550422.5",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.1833-29A>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446730.1",
"strand": false,
"transcript": "ENST00000550422.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1106,
"aa_ref": null,
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