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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: 19-49712775-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49712775&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49712775,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000598293.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2059C>G",
"hgvs_p": "p.Pro687Ala",
"transcript": "NM_001199753.2",
"protein_id": "NP_001186682.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 803,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2367,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": "ENST00000598293.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2059C>G",
"hgvs_p": "p.Pro687Ala",
"transcript": "ENST00000598293.6",
"protein_id": "ENSP00000473028.1",
"transcript_support_level": 2,
"aa_start": 687,
"aa_end": null,
"aa_length": 803,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2367,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": "NM_001199753.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2059C>G",
"hgvs_p": "p.Pro687Ala",
"transcript": "ENST00000323446.9",
"protein_id": "ENSP00000319343.4",
"transcript_support_level": 1,
"aa_start": 687,
"aa_end": null,
"aa_length": 803,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2026C>G",
"hgvs_p": "p.Pro676Ala",
"transcript": "ENST00000405931.6",
"protein_id": "ENSP00000384465.2",
"transcript_support_level": 1,
"aa_start": 676,
"aa_end": null,
"aa_length": 792,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 2785,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.733-197C>G",
"hgvs_p": null,
"transcript": "ENST00000595031.1",
"protein_id": "ENSP00000472579.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": -4,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2125C>G",
"hgvs_p": "p.Pro709Ala",
"transcript": "NM_001378482.1",
"protein_id": "NP_001365411.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 825,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2433,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2059C>G",
"hgvs_p": "p.Pro687Ala",
"transcript": "NM_001199752.3",
"protein_id": "NP_001186681.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 803,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2059C>G",
"hgvs_p": "p.Pro687Ala",
"transcript": "NM_001378483.1",
"protein_id": "NP_001365412.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 803,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2059C>G",
"hgvs_p": "p.Pro687Ala",
"transcript": "NM_001378484.1",
"protein_id": "NP_001365413.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 803,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2196,
"cdna_end": null,
"cdna_length": 2675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2059C>G",
"hgvs_p": "p.Pro687Ala",
"transcript": "NM_152359.3",
"protein_id": "NP_689572.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 803,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2059C>G",
"hgvs_p": "p.Pro687Ala",
"transcript": "ENST00000392518.8",
"protein_id": "ENSP00000376303.4",
"transcript_support_level": 2,
"aa_start": 687,
"aa_end": null,
"aa_length": 803,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2026C>G",
"hgvs_p": "p.Pro676Ala",
"transcript": "NM_001136052.3",
"protein_id": "NP_001129524.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 792,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2334,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2026C>G",
"hgvs_p": "p.Pro676Ala",
"transcript": "NM_001378485.1",
"protein_id": "NP_001365414.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 792,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1924C>G",
"hgvs_p": "p.Pro642Ala",
"transcript": "NM_001378486.1",
"protein_id": "NP_001365415.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 758,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1924C>G",
"hgvs_p": "p.Pro642Ala",
"transcript": "NM_001378488.1",
"protein_id": "NP_001365417.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 758,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2232,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1891C>G",
"hgvs_p": "p.Pro631Ala",
"transcript": "NM_001378487.1",
"protein_id": "NP_001365416.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 747,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2125C>G",
"hgvs_p": "p.Pro709Ala",
"transcript": "XM_047438151.1",
"protein_id": "XP_047294107.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 825,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2608,
"cdna_end": null,
"cdna_length": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2125C>G",
"hgvs_p": "p.Pro709Ala",
"transcript": "XM_047438152.1",
"protein_id": "XP_047294108.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 825,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2125C>G",
"hgvs_p": "p.Pro709Ala",
"transcript": "XM_047438153.1",
"protein_id": "XP_047294109.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 825,
"cds_start": 2125,
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"cdna_start": 2544,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2125C>G",
"hgvs_p": "p.Pro709Ala",
"transcript": "XM_047438154.1",
"protein_id": "XP_047294110.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 825,
"cds_start": 2125,
"cds_end": null,
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"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2125C>G",
"hgvs_p": "p.Pro709Ala",
"transcript": "XM_047438155.1",
"protein_id": "XP_047294111.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 825,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2262,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.2059C>G",
"hgvs_p": "p.Pro687Ala",
"transcript": "XM_047438156.1",
"protein_id": "XP_047294112.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 803,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
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"phylop100way_prediction": "Uncertain_significance",
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{
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"verdict": "Benign",
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],
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Hereditary spastic paraplegia 73|CPT1C-related disorder|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}