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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: 22-41838933-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41838933&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SREBF2",
"hgnc_id": 11290,
"hgvs_c": "c.88+5575C>T",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_004599.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 93778,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.89,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8899999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1141,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5237,
"cdna_start": null,
"cds_end": null,
"cds_length": 3426,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004599.4",
"gene_hgnc_id": 11290,
"gene_symbol": "SREBF2",
"hgvs_c": "c.88+5575C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361204.9",
"protein_coding": true,
"protein_id": "NP_004590.2",
"strand": true,
"transcript": "NM_004599.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1141,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5237,
"cdna_start": null,
"cds_end": null,
"cds_length": 3426,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361204.9",
"gene_hgnc_id": 11290,
"gene_symbol": "SREBF2",
"hgvs_c": "c.88+5575C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004599.4",
"protein_coding": true,
"protein_id": "ENSP00000354476.4",
"strand": true,
"transcript": "ENST00000361204.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5699,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424354.5",
"gene_hgnc_id": 11290,
"gene_symbol": "SREBF2",
"hgvs_c": "n.88+5575C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000395728.1",
"strand": true,
"transcript": "ENST00000424354.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1147,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5228,
"cdna_start": null,
"cds_end": null,
"cds_length": 3444,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925855.1",
"gene_hgnc_id": 11290,
"gene_symbol": "SREBF2",
"hgvs_c": "c.88+5575C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595914.1",
"strand": true,
"transcript": "ENST00000925855.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1140,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5221,
"cdna_start": null,
"cds_end": null,
"cds_length": 3423,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925851.1",
"gene_hgnc_id": 11290,
"gene_symbol": "SREBF2",
"hgvs_c": "c.88+5575C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595910.1",
"strand": true,
"transcript": "ENST00000925851.1",
"transcript_support_level": null
},
{
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"aa_length": 1139,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5233,
"cdna_start": null,
"cds_end": null,
"cds_length": 3420,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925849.1",
"gene_hgnc_id": 11290,
"gene_symbol": "SREBF2",
"hgvs_c": "c.88+5575C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595908.1",
"strand": true,
"transcript": "ENST00000925849.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1137,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5204,
"cdna_start": null,
"cds_end": null,
"cds_length": 3414,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873316.1",
"gene_hgnc_id": 11290,
"gene_symbol": "SREBF2",
"hgvs_c": "c.88+5575C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543375.1",
"strand": true,
"transcript": "ENST00000873316.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1129,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5192,
"cdna_start": null,
"cds_end": null,
"cds_length": 3390,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873314.1",
"gene_hgnc_id": 11290,
"gene_symbol": "SREBF2",
"hgvs_c": "c.88+5575C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543373.1",
"strand": true,
"transcript": "ENST00000873314.1",
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},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000925854.1",
"gene_hgnc_id": 11290,
"gene_symbol": "SREBF2",
"hgvs_c": "c.88+5575C>T",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000595913.1",
"strand": true,
"transcript": "ENST00000925854.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000925853.1",
"gene_hgnc_id": 11290,
"gene_symbol": "SREBF2",
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"mane_plus": null,
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"transcript": "ENST00000925853.1",
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},
{
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],
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"feature": "ENST00000710853.1",
"gene_hgnc_id": 11290,
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"protein_id": "ENSP00000518526.1",
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},
{
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},
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},
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],
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"feature": "ENST00000925850.1",
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"protein_coding": true,
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},
{
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"feature": "ENST00000925852.1",
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"protein_coding": true,
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},
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"consequences": [
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],
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"feature": "ENST00000873313.1",
"gene_hgnc_id": 11290,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000543372.1",
"strand": true,
"transcript": "ENST00000873313.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000873315.1",
"gene_hgnc_id": 11290,
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},
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],
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"feature": "ENST00000925848.1",
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},
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],
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"feature": "ENST00000873311.1",
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},
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"consequences": [
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],
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"feature": "ENST00000873317.1",
"gene_hgnc_id": 11290,
"gene_symbol": "SREBF2",
"hgvs_c": "c.88+5575C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000543376.1",
"strand": true,
"transcript": "ENST00000873317.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
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"feature": "XM_011530347.3",
"gene_hgnc_id": 11290,
"gene_symbol": "SREBF2",
"hgvs_c": "c.88+5575C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011528649.1",
"strand": true,
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"transcript_support_level": null
},
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