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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: 12-6729397-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6729397&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6729397,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016319.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "NM_001164094.2",
"protein_id": "NP_001157566.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000543155.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164094.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000543155.6",
"protein_id": "ENSP00000438115.1",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001164094.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543155.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000229251.7",
"protein_id": "ENSP00000229251.3",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229251.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000534947.5",
"protein_id": "ENSP00000446039.1",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534947.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Trp",
"transcript": "ENST00000956857.1",
"protein_id": "ENSP00000626916.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 279,
"cds_start": 490,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956857.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "NM_001164093.2",
"protein_id": "NP_001157565.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164093.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "NM_001164095.3",
"protein_id": "NP_001157567.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164095.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "NM_016319.4",
"protein_id": "NP_057403.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016319.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000534877.5",
"protein_id": "ENSP00000438363.1",
"transcript_support_level": 5,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534877.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000539735.5",
"protein_id": "ENSP00000441852.1",
"transcript_support_level": 5,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539735.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000889562.1",
"protein_id": "ENSP00000559621.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889562.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000889563.1",
"protein_id": "ENSP00000559622.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889563.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000889564.1",
"protein_id": "ENSP00000559623.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889564.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000889565.1",
"protein_id": "ENSP00000559624.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889565.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000889567.1",
"protein_id": "ENSP00000559626.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889567.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000889568.1",
"protein_id": "ENSP00000559627.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889568.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000889570.1",
"protein_id": "ENSP00000559629.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889570.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000889573.1",
"protein_id": "ENSP00000559632.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889573.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000928877.1",
"protein_id": "ENSP00000598936.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928877.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000928879.1",
"protein_id": "ENSP00000598938.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928879.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000928883.1",
"protein_id": "ENSP00000598942.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928883.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000956858.1",
"protein_id": "ENSP00000626917.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 478,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"bayesdelnoaf_prediction": "Pathogenic",
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{
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"transcript": "NM_016319.4",
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"effects": [
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"inheritance_mode": "",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}