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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: 7-50470354-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=50470354&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DDC",
"hgnc_id": 2719,
"hgvs_c": "c.1042-183C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_000790.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_score": -14,
"allele_count_reference_population": 6040,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "7",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8399999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 480,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": null,
"cds_end": null,
"cds_length": 1443,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001082971.2",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1042-183C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000444124.7",
"protein_coding": true,
"protein_id": "NP_001076440.2",
"strand": false,
"transcript": "NM_001082971.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 480,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": null,
"cds_end": null,
"cds_length": 1443,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000444124.7",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1042-183C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001082971.2",
"protein_coding": true,
"protein_id": "ENSP00000403644.2",
"strand": false,
"transcript": "ENST00000444124.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 480,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1938,
"cdna_start": null,
"cds_end": null,
"cds_length": 1443,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000357936.9",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1042-183C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350616.5",
"strand": false,
"transcript": "ENST00000357936.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 528,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": null,
"cds_end": null,
"cds_length": 1587,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897740.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1186-183C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567799.1",
"strand": false,
"transcript": "ENST00000897740.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 521,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": null,
"cds_end": null,
"cds_length": 1566,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897739.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1165-183C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567798.1",
"strand": false,
"transcript": "ENST00000897739.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 521,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": null,
"cds_end": null,
"cds_length": 1566,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897756.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1165-183C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567815.1",
"strand": false,
"transcript": "ENST00000897756.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": null,
"cds_end": null,
"cds_length": 1452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897747.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1051-183C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567806.1",
"strand": false,
"transcript": "ENST00000897747.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1954,
"cdna_start": null,
"cds_end": null,
"cds_length": 1452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897752.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1051-183C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000567811.1",
"strand": false,
"transcript": "ENST00000897752.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
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"exon_rank_end": null,
"feature": "NM_000790.4",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1042-183C>T",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000781.2",
"strand": false,
"transcript": "NM_000790.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000897741.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1042-183C>T",
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"mane_plus": null,
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"protein_id": "ENSP00000567800.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000897750.1",
"gene_hgnc_id": 2719,
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"protein_coding": true,
"protein_id": "ENSP00000567809.1",
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},
{
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},
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},
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],
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"feature": "ENST00000897758.1",
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},
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],
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},
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],
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"feature": "ENST00000897746.1",
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"gene_symbol": "DDC",
"hgvs_c": "c.1042-183C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000567805.1",
"strand": false,
"transcript": "ENST00000897746.1",
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},
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],
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"feature": "ENST00000897749.1",
"gene_hgnc_id": 2719,
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"hgvs_c": "c.1042-3039C>T",
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},
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},
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],
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},
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],
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"feature": "NM_001242886.2",
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"protein_coding": true,
"protein_id": "NP_001229815.2",
"strand": false,
"transcript": "NM_001242886.2",
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},
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000622873.4",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.928-183C>T",
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"protein_coding": true,
"protein_id": "ENSP00000479110.1",
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},
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}
],
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}
]
}