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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: 22-20779935-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20779935&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"PP3",
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SERPIND1",
"hgnc_id": 4838,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 1,
"score": -15,
"transcript": "NM_000185.4",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"PP3",
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PI4KA",
"hgnc_id": 8983,
"hgvs_c": "c.2328+13258C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": -19,
"transcript": "NM_058004.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -15,
"allele_count_reference_population": 2829,
"alphamissense_prediction": null,
"alphamissense_score": 0.4972,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.43,
"chr": "22",
"clinvar_classification": "Benign",
"clinvar_disease": "Heparin cofactor II deficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.050468772649765015,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 499,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2203,
"cdna_start": 672,
"cds_end": null,
"cds_length": 1500,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_000185.4",
"gene_hgnc_id": 4838,
"gene_symbol": "SERPIND1",
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000215727.10",
"protein_coding": true,
"protein_id": "NP_000176.2",
"strand": true,
"transcript": "NM_000185.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 499,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2203,
"cdna_start": 672,
"cds_end": null,
"cds_length": 1500,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000215727.10",
"gene_hgnc_id": 4838,
"gene_symbol": "SERPIND1",
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000185.4",
"protein_coding": true,
"protein_id": "ENSP00000215727.5",
"strand": true,
"transcript": "ENST00000215727.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 499,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1798,
"cdna_start": 755,
"cds_end": null,
"cds_length": 1500,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000406799.1",
"gene_hgnc_id": 4838,
"gene_symbol": "SERPIND1",
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384050.1",
"strand": true,
"transcript": "ENST00000406799.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2102,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6751,
"cdna_start": null,
"cds_end": null,
"cds_length": 6309,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 55,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_058004.4",
"gene_hgnc_id": 8983,
"gene_symbol": "PI4KA",
"hgvs_c": "c.2328+13258C>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000255882.11",
"protein_coding": true,
"protein_id": "NP_477352.3",
"strand": false,
"transcript": "NM_058004.4",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 2102,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6751,
"cdna_start": null,
"cds_end": null,
"cds_length": 6309,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 55,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000255882.11",
"gene_hgnc_id": 8983,
"gene_symbol": "PI4KA",
"hgvs_c": "c.2328+13258C>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_058004.4",
"protein_coding": true,
"protein_id": "ENSP00000255882.6",
"strand": false,
"transcript": "ENST00000255882.11",
"transcript_support_level": 1
},
{
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"aa_end": null,
"aa_length": 499,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": 667,
"cds_end": null,
"cds_length": 1500,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881285.1",
"gene_hgnc_id": 4838,
"gene_symbol": "SERPIND1",
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551344.1",
"strand": true,
"transcript": "ENST00000881285.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": 672,
"cds_end": null,
"cds_length": 1386,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881286.1",
"gene_hgnc_id": 4838,
"gene_symbol": "SERPIND1",
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551345.1",
"strand": true,
"transcript": "ENST00000881286.1",
"transcript_support_level": null
},
{
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"aa_length": 2114,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6757,
"cdna_start": null,
"cds_end": null,
"cds_length": 6345,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 56,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939414.1",
"gene_hgnc_id": 8983,
"gene_symbol": "PI4KA",
"hgvs_c": "c.2328+13258C>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609473.1",
"strand": false,
"transcript": "ENST00000939414.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6758,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 55,
"exon_rank": null,
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"feature": "ENST00000939412.1",
"gene_hgnc_id": 8983,
"gene_symbol": "PI4KA",
"hgvs_c": "c.2328+13258C>T",
"hgvs_p": null,
"intron_rank": 19,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000609471.1",
"strand": false,
"transcript": "ENST00000939412.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000957004.1",
"gene_hgnc_id": 8983,
"gene_symbol": "PI4KA",
"hgvs_c": "c.2322+13258C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627063.1",
"strand": false,
"transcript": "ENST00000957004.1",
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},
{
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"consequences": [
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],
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},
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"feature": "ENST00000939409.1",
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},
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},
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"feature": "NM_001362863.2",
"gene_hgnc_id": 8983,
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},
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"feature": "ENST00000880811.1",
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"feature": "NM_001362862.2",
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],
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"feature": "ENST00000939411.1",
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000939411.1",
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},
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"consequences": [
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],
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"feature": "ENST00000939413.1",
"gene_hgnc_id": 8983,
"gene_symbol": "PI4KA",
"hgvs_c": "c.2232+13258C>T",
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"mane_plus": null,
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"protein_coding": true,
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"transcript": "ENST00000939413.1",
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},
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