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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: 6-42934598-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=42934598&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 42934598,
"ref": "C",
"alt": "A",
"effect": "stop_gained,splice_region_variant",
"transcript": "NM_006586.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.275C>A",
"hgvs_p": "p.Ser92*",
"transcript": "NM_006586.5",
"protein_id": "NP_006577.2",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 278,
"cds_start": 275,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372836.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006586.5"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.275C>A",
"hgvs_p": "p.Ser92*",
"transcript": "ENST00000372836.5",
"protein_id": "ENSP00000361926.4",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 278,
"cds_start": 275,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006586.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372836.5"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.275C>A",
"hgvs_p": "p.Ser92Tyr",
"transcript": "ENST00000893179.1",
"protein_id": "ENSP00000563238.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 332,
"cds_start": 275,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893179.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.437C>A",
"hgvs_p": "p.Ser146*",
"transcript": "ENST00000924680.1",
"protein_id": "ENSP00000594739.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 332,
"cds_start": 437,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924680.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.275C>A",
"hgvs_p": "p.Ser92Tyr",
"transcript": "NM_001318842.1",
"protein_id": "NP_001305771.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 311,
"cds_start": 275,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318842.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.275C>A",
"hgvs_p": "p.Ser92Tyr",
"transcript": "ENST00000924677.1",
"protein_id": "ENSP00000594736.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 311,
"cds_start": 275,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924677.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.275C>A",
"hgvs_p": "p.Ser92Tyr",
"transcript": "ENST00000924679.1",
"protein_id": "ENSP00000594738.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 303,
"cds_start": 275,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924679.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Ser106*",
"transcript": "ENST00000893180.1",
"protein_id": "ENSP00000563239.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 292,
"cds_start": 317,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893180.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.275C>A",
"hgvs_p": "p.Ser92Tyr",
"transcript": "ENST00000945354.1",
"protein_id": "ENSP00000615413.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 275,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945354.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.275C>A",
"hgvs_p": "p.Ser92*",
"transcript": "ENST00000893181.1",
"protein_id": "ENSP00000563240.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 237,
"cds_start": 275,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893181.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.275C>A",
"hgvs_p": "p.Ser92*",
"transcript": "ENST00000893182.1",
"protein_id": "ENSP00000563241.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 233,
"cds_start": 275,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893182.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.275C>A",
"hgvs_p": "p.Ser92*",
"transcript": "ENST00000945355.1",
"protein_id": "ENSP00000615414.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 168,
"cds_start": 275,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945355.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.275C>A",
"hgvs_p": "p.Ser92*",
"transcript": "NM_001318848.2",
"protein_id": "NP_001305777.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 151,
"cds_start": 275,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318848.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.275C>A",
"hgvs_p": "p.Ser92Tyr",
"transcript": "NM_001318847.2",
"protein_id": "NP_001305776.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 116,
"cds_start": 275,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318847.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.272+3C>A",
"hgvs_p": null,
"transcript": "ENST00000945352.1",
"protein_id": "ENSP00000615411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": null,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945352.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNPY3-GNMT",
"gene_hgnc_id": null,
"hgvs_c": "c.151+4877C>A",
"hgvs_p": null,
"transcript": "NM_001318857.2",
"protein_id": "NP_001305786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318857.2"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNPY3-GNMT",
"gene_hgnc_id": null,
"hgvs_c": "c.8+4877C>A",
"hgvs_p": null,
"transcript": "NM_001318856.2",
"protein_id": "NP_001305785.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": null,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318856.2"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.217-3119C>A",
"hgvs_p": null,
"transcript": "ENST00000945353.1",
"protein_id": "ENSP00000615412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945353.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNPY3-GNMT",
"gene_hgnc_id": null,
"hgvs_c": "c.151+4877C>A",
"hgvs_p": null,
"transcript": "NM_001318858.2",
"protein_id": "NP_001305787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": null,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318858.2"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.9-976C>A",
"hgvs_p": null,
"transcript": "NM_001318845.1",
"protein_id": "NP_001305774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": null,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318845.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "c.152-3970C>A",
"hgvs_p": null,
"transcript": "ENST00000924678.1",
"protein_id": "ENSP00000594737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924678.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY3",
"gene_hgnc_id": 11968,
"hgvs_c": "n.716C>A",
"hgvs_p": null,
"transcript": "NR_134880.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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{
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"PM2"
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"verdict": "Pathogenic",
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{
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"verdict": "Likely_pathogenic",
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],
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}