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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: 1-224728890-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=224728890&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": "CNIH3",
"hgnc_id": 26802,
"hgvs_c": "c.283-1572C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001322302.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CNIH3-AS1",
"hgnc_id": 41163,
"hgvs_c": "n.365+1408G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000431691.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 18922,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 160,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": null,
"cds_end": null,
"cds_length": 483,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_152495.2",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "c.199-1572C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000272133.4",
"protein_coding": true,
"protein_id": "NP_689708.1",
"strand": true,
"transcript": "NM_152495.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 160,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": null,
"cds_end": null,
"cds_length": 483,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000272133.4",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "c.199-1572C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152495.2",
"protein_coding": true,
"protein_id": "ENSP00000272133.3",
"strand": true,
"transcript": "ENST00000272133.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 188,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2005,
"cdna_start": null,
"cds_end": null,
"cds_length": 567,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322302.2",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "c.283-1572C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309231.1",
"strand": true,
"transcript": "NM_001322302.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 166,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1939,
"cdna_start": null,
"cds_end": null,
"cds_length": 501,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322303.2",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "c.217-1572C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309232.1",
"strand": true,
"transcript": "NM_001322303.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 144,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": null,
"cds_end": null,
"cds_length": 435,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322305.2",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "c.151-1572C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309234.1",
"strand": true,
"transcript": "NM_001322305.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 144,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2486,
"cdna_start": null,
"cds_end": null,
"cds_length": 435,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860910.1",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "c.151-1572C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530969.1",
"strand": true,
"transcript": "ENST00000860910.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 142,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": null,
"cds_end": null,
"cds_length": 429,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322304.2",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "c.145-1572C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309233.1",
"strand": true,
"transcript": "NM_001322304.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933029.1",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "c.82-1572C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603088.1",
"strand": true,
"transcript": "ENST00000933029.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 837,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000431691.1",
"gene_hgnc_id": 41163,
"gene_symbol": "CNIH3-AS1",
"hgvs_c": "n.365+1408G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000431691.1",
"transcript_support_level": 3
},
{
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"aa_length": null,
"aa_ref": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 785,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000478120.5",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "n.520-1572C>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000478120.5",
"transcript_support_level": 5
},
{
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"aa_length": null,
"aa_ref": null,
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"biotype": "pseudogene",
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"cdna_end": null,
"cdna_length": 747,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 7,
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"feature": "ENST00000481095.5",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "n.491-1572C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000481095.5",
"transcript_support_level": 3
},
{
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"biotype": "pseudogene",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000498382.5",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "n.348-1572C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000498382.5",
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},
{
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"biotype": "pseudogene",
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"consequences": [
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],
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"feature": "NR_136287.2",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "n.1057-5673C>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_136287.2",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "NR_136288.1",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "n.407-1572C>T",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_136288.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
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"feature": "NR_136289.1",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "n.543-1572C>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_136289.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "NR_136290.1",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "n.477-1572C>T",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_136290.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
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"cdna_end": null,
"cdna_length": 2141,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
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"feature": "NR_136291.2",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "n.659-1572C>T",
"hgvs_p": null,
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"mane_plus": null,
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},
{
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],
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"feature": "NR_136292.2",
"gene_hgnc_id": 26802,
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"transcript": "NR_136292.2",
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},
{
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"consequences": [
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],
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"feature": "NR_136293.2",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "n.829-1572C>T",
"hgvs_p": null,
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},
{
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"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
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"feature": "NR_136294.2",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "n.763-1572C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_136294.2",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_136295.2",
"gene_hgnc_id": 26802,
"gene_symbol": "CNIH3",
"hgvs_c": "n.634-1572C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_136295.2",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
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