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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: 3-1358735-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=1358735&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 1358735,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000446702.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1492+6284C>A",
"hgvs_p": null,
"transcript": "NM_001289080.2",
"protein_id": "NP_001276009.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": -4,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": "ENST00000446702.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1492+6284C>A",
"hgvs_p": null,
"transcript": "ENST00000446702.7",
"protein_id": "ENSP00000407822.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": -4,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": "NM_001289080.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1492+6284C>A",
"hgvs_p": null,
"transcript": "ENST00000350110.2",
"protein_id": "ENSP00000341882.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": -4,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.*133C>A",
"hgvs_p": null,
"transcript": "XM_017006177.3",
"protein_id": "XP_016861666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 539,
"cds_start": -4,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1492+6284C>A",
"hgvs_p": null,
"transcript": "NM_001349350.2",
"protein_id": "NP_001336279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": -4,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1492+6284C>A",
"hgvs_p": null,
"transcript": "NM_001349351.2",
"protein_id": "NP_001336280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": -4,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1492+6284C>A",
"hgvs_p": null,
"transcript": "NM_001349352.2",
"protein_id": "NP_001336281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": -4,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1492+6284C>A",
"hgvs_p": null,
"transcript": "NM_001349353.2",
"protein_id": "NP_001336282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": -4,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1492+6284C>A",
"hgvs_p": null,
"transcript": "NM_001349354.2",
"protein_id": "NP_001336283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": -4,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1492+6284C>A",
"hgvs_p": null,
"transcript": "NM_001349355.2",
"protein_id": "NP_001336284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": -4,
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"cds_length": 3087,
"cdna_start": null,
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"cdna_length": 4234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1492+6284C>A",
"hgvs_p": null,
"transcript": "NM_014461.4",
"protein_id": "NP_055276.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 11,
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"gene_symbol": "CNTN6",
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"hgvs_c": "c.1384+6284C>A",
"hgvs_p": null,
"transcript": "NM_001349356.2",
"protein_id": "NP_001336285.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1276+6284C>A",
"hgvs_p": null,
"transcript": "NM_001289081.2",
"protein_id": "NP_001276010.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 10,
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"gene_symbol": "CNTN6",
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"hgvs_c": "c.1180+6284C>A",
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"transcript": "NM_001349357.2",
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},
{
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"consequences": [
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],
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"gene_symbol": "CNTN6",
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"hgvs_p": null,
"transcript": "NM_001349358.2",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 10,
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"gene_symbol": "CNTN6",
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"hgvs_c": "c.370+6284C>A",
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"transcript": "NM_001349359.2",
"protein_id": "NP_001336288.1",
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},
{
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],
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"intron_rank": 10,
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"gene_symbol": "CNTN6",
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"hgvs_c": "c.370+6284C>A",
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"transcript": "NM_001349360.2",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.370+6284C>A",
"hgvs_p": null,
"transcript": "NM_001349361.2",
"protein_id": "NP_001336290.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 11,
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"gene_symbol": "CNTN6",
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"hgvs_c": "c.370+6284C>A",
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"transcript": "NM_001349362.2",
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},
{
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],
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"intron_rank": 11,
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"gene_symbol": "CNTN6",
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"transcript": "ENST00000397479.6",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 12,
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"gene_symbol": "CNTN6",
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"hgvs_c": "c.1492+6284C>A",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1492+6284C>A",
"hgvs_p": null,
"transcript": "XM_017006172.3",
"protein_id": "XP_016861661.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1492+6284C>A",
"hgvs_p": null,
"transcript": "XM_047447972.1",
"protein_id": "XP_047303928.1",
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"cdna_start": null,
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},
{
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}
],
"gene_symbol": "CNTN6",
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"allele_count_reference_population": 0,
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"computational_score_selected": -0.9300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.93,
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"acmg_score": -2,
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"acmg_by_gene": [
{
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000446702.7",
"gene_symbol": "CNTN6",
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"effects": [
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],
"inheritance_mode": "AD,Unknown",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}