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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: 16-30006257-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=30006257&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DOC2A",
"hgnc_id": 2985,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -4,
"transcript": "NM_003586.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_score": -4,
"allele_count_reference_population": 62,
"alphamissense_prediction": null,
"alphamissense_score": 0.0646,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "16",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.028079450130462646,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_003586.3",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000350119.9",
"protein_coding": true,
"protein_id": "NP_003577.2",
"strand": false,
"transcript": "NM_003586.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000350119.9",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003586.3",
"protein_coding": true,
"protein_id": "ENSP00000340017.4",
"strand": false,
"transcript": "ENST00000350119.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1630,
"cdna_start": 1245,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000564979.5",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455624.1",
"strand": false,
"transcript": "ENST00000564979.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000616445.4",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482870.1",
"strand": false,
"transcript": "ENST00000616445.4",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 1362,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001282062.1",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268991.1",
"strand": false,
"transcript": "NM_001282062.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 1325,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001282063.2",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268992.1",
"strand": false,
"transcript": "NM_001282063.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001282068.2",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268997.1",
"strand": false,
"transcript": "NM_001282068.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000564944.5",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455196.1",
"strand": false,
"transcript": "ENST00000564944.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": 1706,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000861623.1",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531682.1",
"strand": false,
"transcript": "ENST00000861623.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000861624.1",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531683.1",
"strand": false,
"transcript": "ENST00000861624.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 1524,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000861625.1",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531684.1",
"strand": false,
"transcript": "ENST00000861625.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000861626.1",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531685.1",
"strand": false,
"transcript": "ENST00000861626.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000861627.1",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531686.1",
"strand": false,
"transcript": "ENST00000861627.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1441,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000861629.1",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531688.1",
"strand": false,
"transcript": "ENST00000861629.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2341,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000861630.1",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531689.1",
"strand": false,
"transcript": "ENST00000861630.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 1412,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000861631.1",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531690.1",
"strand": false,
"transcript": "ENST00000861631.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1991,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000861632.1",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531691.1",
"strand": false,
"transcript": "ENST00000861632.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2440,
"cdna_start": 1697,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000861633.1",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531692.1",
"strand": false,
"transcript": "ENST00000861633.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000934550.1",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604609.1",
"strand": false,
"transcript": "ENST00000934550.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2263,
"cdna_start": 1515,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000934551.1",
"gene_hgnc_id": 2985,
"gene_symbol": "DOC2A",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604610.1",
"strand": false,
"transcript": "ENST00000934551.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000934552.1",
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