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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: 3-49532212-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49532212&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DAG1",
"hgnc_id": 2666,
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_004393.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_score": -17,
"allele_count_reference_population": 1327,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "3",
"clinvar_classification": "Benign",
"clinvar_disease": " type A9,Autosomal recessive limb-girdle muscular dystrophy type 2P,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6000000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5387,
"cdna_start": 1984,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_004393.6",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308775.7",
"protein_coding": true,
"protein_id": "NP_004384.5",
"strand": true,
"transcript": "NM_004393.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5387,
"cdna_start": 1984,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000308775.7",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004393.6",
"protein_coding": true,
"protein_id": "ENSP00000312435.2",
"strand": true,
"transcript": "ENST00000308775.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5748,
"cdna_start": 2345,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001165928.4",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159400.3",
"strand": true,
"transcript": "NM_001165928.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5691,
"cdna_start": 2288,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001177634.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171105.2",
"strand": true,
"transcript": "NM_001177634.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5280,
"cdna_start": 1877,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177635.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171106.2",
"strand": true,
"transcript": "NM_001177635.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5669,
"cdna_start": 2266,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001177636.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171107.2",
"strand": true,
"transcript": "NM_001177636.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5507,
"cdna_start": 2104,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177637.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171108.2",
"strand": true,
"transcript": "NM_001177637.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5538,
"cdna_start": 2135,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177638.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171109.2",
"strand": true,
"transcript": "NM_001177638.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5228,
"cdna_start": 1825,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001177639.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171110.2",
"strand": true,
"transcript": "NM_001177639.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5444,
"cdna_start": 2041,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177640.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171111.2",
"strand": true,
"transcript": "NM_001177640.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5534,
"cdna_start": 2131,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177641.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171112.2",
"strand": true,
"transcript": "NM_001177641.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5439,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177642.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171113.2",
"strand": true,
"transcript": "NM_001177642.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5328,
"cdna_start": 1925,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001177643.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171114.2",
"strand": true,
"transcript": "NM_001177643.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5527,
"cdna_start": 2124,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001177644.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171115.2",
"strand": true,
"transcript": "NM_001177644.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6032,
"cdna_start": 2629,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001438880.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425809.1",
"strand": true,
"transcript": "NM_001438880.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5962,
"cdna_start": 2559,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001438881.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425810.1",
"strand": true,
"transcript": "NM_001438881.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5905,
"cdna_start": 2502,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001438882.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425811.1",
"strand": true,
"transcript": "NM_001438882.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5529,
"cdna_start": 2126,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438883.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425812.1",
"strand": true,
"transcript": "NM_001438883.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5774,
"cdna_start": 2371,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438884.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425813.1",
"strand": true,
"transcript": "NM_001438884.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5595,
"cdna_start": 2192,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438885.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Ser567Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425814.1",
"strand": true,
"transcript": "NM_001438885.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5680,
"cdna_start": 2277,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1701,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438886.1",
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