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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: 2-173354996-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=173354996&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CDCA7",
"hgnc_id": 14628,
"hgvs_c": "c.21+12G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -4,
"transcript": "NM_031942.5",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000293276",
"hgnc_id": null,
"hgvs_c": "n.223+1171C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -4,
"transcript": "ENST00000437243.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_score": -4,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"chr": "2",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7599999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 450,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": null,
"cds_end": null,
"cds_length": 1353,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_031942.5",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
"hgvs_c": "c.21+12G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000306721.8",
"protein_coding": true,
"protein_id": "NP_114148.3",
"strand": true,
"transcript": "NM_031942.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 450,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": null,
"cds_end": null,
"cds_length": 1353,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000306721.8",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
"hgvs_c": "c.21+12G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031942.5",
"protein_coding": true,
"protein_id": "ENSP00000306968.3",
"strand": true,
"transcript": "ENST00000306721.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 371,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": null,
"cds_end": null,
"cds_length": 1116,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000347703.7",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
"hgvs_c": "c.21+12G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000272789.4",
"strand": true,
"transcript": "ENST00000347703.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3176,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000467411.5",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
"hgvs_c": "n.92+12G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000467411.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 451,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2813,
"cdna_start": null,
"cds_end": null,
"cds_length": 1356,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911359.1",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
"hgvs_c": "c.21+12G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581418.1",
"strand": true,
"transcript": "ENST00000911359.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2735,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695912.1",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
"hgvs_c": "c.21+12G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512263.1",
"strand": true,
"transcript": "ENST00000695912.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 441,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2649,
"cdna_start": null,
"cds_end": null,
"cds_length": 1326,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911364.1",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
"hgvs_c": "c.21+12G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581423.1",
"strand": true,
"transcript": "ENST00000911364.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 406,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1369,
"cdna_start": null,
"cds_end": null,
"cds_length": 1221,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000410101.7",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
"hgvs_c": "c.21+12G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386656.3",
"strand": true,
"transcript": "ENST00000410101.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 400,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2625,
"cdna_start": null,
"cds_end": null,
"cds_length": 1203,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858243.1",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
"hgvs_c": "c.21+12G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000528302.1",
"strand": true,
"transcript": "ENST00000858243.1",
"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": 2617,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000911358.1",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000581417.1",
"strand": true,
"transcript": "ENST00000911358.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
"intron_variant"
],
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"feature": "ENST00000858244.1",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
"hgvs_c": "c.21+12G>A",
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"protein_coding": true,
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"transcript": "ENST00000858244.1",
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},
{
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"consequences": [
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],
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"feature": "NM_145810.3",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
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"protein_coding": true,
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},
{
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],
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"feature": "ENST00000695914.1",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000512265.1",
"strand": true,
"transcript": "ENST00000695914.1",
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},
{
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],
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"feature": "ENST00000911362.1",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
"hgvs_c": "c.21+12G>A",
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"protein_id": "ENSP00000581421.1",
"strand": true,
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},
{
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],
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"exon_rank": null,
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"feature": "ENST00000410019.3",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
"hgvs_c": "c.21+12G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000386833.3",
"strand": true,
"transcript": "ENST00000410019.3",
"transcript_support_level": 2
},
{
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000695901.1",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
"hgvs_c": "c.21+12G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000512251.1",
"strand": true,
"transcript": "ENST00000695901.1",
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},
{
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],
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"feature": "ENST00000911360.1",
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},
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],
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"feature": "ENST00000911363.1",
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"protein_coding": true,
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"strand": true,
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},
{
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],
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"feature": "ENST00000911361.1",
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"hgvs_c": "c.21+12G>A",
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"protein_coding": true,
"protein_id": "ENSP00000581420.1",
"strand": true,
"transcript": "ENST00000911361.1",
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},
{
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"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
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"feature": "XM_047445957.1",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
"hgvs_c": "c.21+12G>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301913.1",
"strand": true,
"transcript": "XM_047445957.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 928,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000435616.5",
"gene_hgnc_id": 14628,
"gene_symbol": "CDCA7",
"hgvs_c": "n.21+12G>A",
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}