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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: 21-42259328-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=42259328&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ABCG1",
"hgnc_id": 73,
"hgvs_c": "c.399T>C",
"hgvs_p": "p.His133His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000398437.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 259209,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.98,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9800000190734863,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 824,
"aa_ref": "H",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": 547,
"cds_end": null,
"cds_length": 2475,
"cds_start": 399,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000398437.1",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.399T>C",
"hgvs_p": "p.His133His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381464.1",
"strand": true,
"transcript": "ENST00000398437.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 666,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": null,
"cds_end": null,
"cds_length": 2001,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016818.3",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.287-11742T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000398449.8",
"protein_coding": true,
"protein_id": "NP_058198.2",
"strand": true,
"transcript": "NM_016818.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 666,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": null,
"cds_end": null,
"cds_length": 2001,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398449.8",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.287-11742T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016818.3",
"protein_coding": true,
"protein_id": "ENSP00000381467.3",
"strand": true,
"transcript": "ENST00000398449.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 678,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10179,
"cdna_start": null,
"cds_end": null,
"cds_length": 2037,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361802.7",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.287-11742T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354995.2",
"strand": true,
"transcript": "ENST00000361802.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 677,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": null,
"cds_end": null,
"cds_length": 2034,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000343687.7",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.320-11742T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339744.3",
"strand": true,
"transcript": "ENST00000343687.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 668,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": null,
"cds_end": null,
"cds_length": 2007,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398457.6",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.293-11742T>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381475.2",
"strand": true,
"transcript": "ENST00000398457.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 663,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2923,
"cdna_start": null,
"cds_end": null,
"cds_length": 1992,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000347800.6",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.278-11742T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000291524.4",
"strand": true,
"transcript": "ENST00000347800.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000462050.5",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "n.471-11742T>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000462050.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 786,
"aa_ref": "H",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 297,
"cds_end": null,
"cds_length": 2361,
"cds_start": 282,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_024452141.2",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.282T>C",
"hgvs_p": "p.His94His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307909.1",
"strand": true,
"transcript": "XM_024452141.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 702,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3084,
"cdna_start": null,
"cds_end": null,
"cds_length": 2109,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878298.1",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.287-11742T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548357.1",
"strand": true,
"transcript": "ENST00000878298.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 690,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3071,
"cdna_start": null,
"cds_end": null,
"cds_length": 2073,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878297.1",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.287-11742T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548356.1",
"strand": true,
"transcript": "ENST00000878297.1",
"transcript_support_level": null
},
{
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"aa_length": 678,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3012,
"cdna_start": null,
"cds_end": null,
"cds_length": 2037,
"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "NM_004915.4",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.287-11742T>C",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004906.3",
"strand": true,
"transcript": "NM_004915.4",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 15,
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"feature": "NM_207174.1",
"gene_hgnc_id": 73,
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"hgvs_c": "c.320-11742T>C",
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"mane_plus": null,
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"protein_id": "NP_997057.1",
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"transcript": "NM_207174.1",
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},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "NM_207627.2",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.293-11742T>C",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_997510.1",
"strand": true,
"transcript": "NM_207627.2",
"transcript_support_level": null
},
{
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"canonical": false,
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"consequences": [
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],
"exon_count": 15,
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"feature": "NM_207629.2",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.278-11742T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_997512.1",
"strand": true,
"transcript": "NM_207629.2",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"cds_end": null,
"cds_length": 1965,
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"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000878300.1",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.287-11742T>C",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548359.1",
"strand": true,
"transcript": "ENST00000878300.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1935,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_207628.1",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.221-11742T>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_997511.1",
"strand": true,
"transcript": "NM_207628.1",
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},
{
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"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000878299.1",
"gene_hgnc_id": 73,
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"protein_id": "ENSP00000548358.1",
"strand": true,
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},
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"consequences": [
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],
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"exon_rank": null,
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"feature": "ENST00000450121.5",
"gene_hgnc_id": 73,
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"hgvs_c": "c.287-11742T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000414541.1",
"strand": true,
"transcript": "ENST00000450121.5",
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},
{
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"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "XM_011529806.2",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.320-11742T>C",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528108.1",
"strand": true,
"transcript": "XM_011529806.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": null,
"cds_end": null,
"cds_length": 1926,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011529807.4",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.320-11742T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528109.1",
"strand": true,
"transcript": "XM_011529807.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1893,
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