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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: 12-2004425-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=2004425&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 2004425,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152640.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "NM_152640.5",
"protein_id": "NP_689853.3",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 617,
"cds_start": 7,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000280665.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152640.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000280665.11",
"protein_id": "ENSP00000280665.6",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 617,
"cds_start": 7,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152640.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280665.11"
},
{
"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": 50,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.139+33224C>T",
"hgvs_p": null,
"transcript": "ENST00000682544.1",
"protein_id": "ENSP00000507184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2251,
"cds_start": null,
"cds_end": null,
"cds_length": 6756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682544.1"
},
{
"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": 48,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.139+33224C>T",
"hgvs_p": null,
"transcript": "ENST00000683824.1",
"protein_id": "ENSP00000507867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2193,
"cds_start": null,
"cds_end": null,
"cds_length": 6582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683824.1"
},
{
"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": 47,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.139+33224C>T",
"hgvs_p": null,
"transcript": "ENST00000682462.1",
"protein_id": "ENSP00000507105.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2168,
"cds_start": null,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682462.1"
},
{
"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": 47,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.139+33224C>T",
"hgvs_p": null,
"transcript": "ENST00000683781.1",
"protein_id": "ENSP00000507434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2168,
"cds_start": null,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683781.1"
},
{
"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": 47,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.139+33224C>T",
"hgvs_p": null,
"transcript": "ENST00000683840.1",
"protein_id": "ENSP00000507612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2168,
"cds_start": null,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683840.1"
},
{
"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": 47,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.139+33224C>T",
"hgvs_p": null,
"transcript": "ENST00000683956.1",
"protein_id": "ENSP00000506882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2168,
"cds_start": null,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683956.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000971563.1",
"protein_id": "ENSP00000641622.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 674,
"cds_start": 7,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971563.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000883051.1",
"protein_id": "ENSP00000553110.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 644,
"cds_start": 7,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883051.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000913952.1",
"protein_id": "ENSP00000584011.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 616,
"cds_start": 7,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913952.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000883049.1",
"protein_id": "ENSP00000553108.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 586,
"cds_start": 7,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883049.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000913950.1",
"protein_id": "ENSP00000584010.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 574,
"cds_start": 7,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913950.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000883050.1",
"protein_id": "ENSP00000553109.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 560,
"cds_start": 7,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883050.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000971564.1",
"protein_id": "ENSP00000641623.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 534,
"cds_start": 7,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971564.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "NM_001319292.2",
"protein_id": "NP_001306221.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 153,
"cds_start": 7,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319292.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000535873.2",
"protein_id": "ENSP00000482714.1",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 153,
"cds_start": 7,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535873.2"
},
{
"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": 53,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.140-31087C>T",
"hgvs_p": null,
"transcript": "XM_017019926.3",
"protein_id": "XP_016875415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2412,
"cds_start": null,
"cds_end": null,
"cds_length": 7239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019926.3"
},
{
"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": 52,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.140-31087C>T",
"hgvs_p": null,
"transcript": "XM_017019927.3",
"protein_id": "XP_016875416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2377,
"cds_start": null,
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"cds_length": 7134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019927.3"
},
{
"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": 52,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.140-31087C>T",
"hgvs_p": null,
"transcript": "XM_047429513.1",
"protein_id": "XP_047285469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2358,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429513.1"
},
{
"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": 51,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.140-31087C>T",
"hgvs_p": null,
"transcript": "XM_017019928.3",
"protein_id": "XP_016875417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2306,
"cds_start": null,
"cds_end": null,
"cds_length": 6921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019928.3"
},
{
"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": 51,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.140-31087C>T",
"hgvs_p": null,
"transcript": "XM_017019929.3",
"protein_id": "XP_016875418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2287,
"cds_start": null,
"cds_end": null,
"cds_length": 6864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019929.3"
},
{
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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{
"score": 0,
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"verdict": "Uncertain_significance",
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{
"score": 0,
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"verdict": "Uncertain_significance",
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"effects": [
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],
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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
}