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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: 1-156593959-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156593959&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156593959,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_144772.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.743delC",
"hgvs_p": "p.Ala248fs",
"transcript": "NM_144772.3",
"protein_id": "NP_658985.2",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 288,
"cds_start": 743,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368235.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144772.3"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.743delC",
"hgvs_p": "p.Ala248fs",
"transcript": "ENST00000368235.8",
"protein_id": "ENSP00000357218.3",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 288,
"cds_start": 743,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144772.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368235.8"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.687delC",
"hgvs_p": "p.Cys229fs",
"transcript": "ENST00000368234.7",
"protein_id": "ENSP00000357217.3",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 260,
"cds_start": 687,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368234.7"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.791delC",
"hgvs_p": "p.Ala264fs",
"transcript": "ENST00000969775.1",
"protein_id": "ENSP00000639834.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 304,
"cds_start": 791,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969775.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.761delC",
"hgvs_p": "p.Ala254fs",
"transcript": "ENST00000886059.1",
"protein_id": "ENSP00000556118.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 294,
"cds_start": 761,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886059.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.743delC",
"hgvs_p": "p.Ala248fs",
"transcript": "ENST00000679702.1",
"protein_id": "ENSP00000505913.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 288,
"cds_start": 743,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679702.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.743delC",
"hgvs_p": "p.Ala248fs",
"transcript": "ENST00000680004.1",
"protein_id": "ENSP00000506275.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 288,
"cds_start": 743,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680004.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.743delC",
"hgvs_p": "p.Ala248fs",
"transcript": "ENST00000680269.1",
"protein_id": "ENSP00000505899.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 288,
"cds_start": 743,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680269.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.743delC",
"hgvs_p": "p.Ala248fs",
"transcript": "ENST00000681054.1",
"protein_id": "ENSP00000506192.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 288,
"cds_start": 743,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681054.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.743delC",
"hgvs_p": "p.Ala248fs",
"transcript": "ENST00000886056.1",
"protein_id": "ENSP00000556115.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 288,
"cds_start": 743,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886056.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.743delC",
"hgvs_p": "p.Ala248fs",
"transcript": "ENST00000969770.1",
"protein_id": "ENSP00000639829.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 288,
"cds_start": 743,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969770.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.743delC",
"hgvs_p": "p.Ala248fs",
"transcript": "ENST00000969771.1",
"protein_id": "ENSP00000639830.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 288,
"cds_start": 743,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969771.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.743delC",
"hgvs_p": "p.Ala248fs",
"transcript": "ENST00000969773.1",
"protein_id": "ENSP00000639832.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 288,
"cds_start": 743,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969773.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.716delC",
"hgvs_p": "p.Ala239fs",
"transcript": "ENST00000886061.1",
"protein_id": "ENSP00000556120.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 279,
"cds_start": 716,
"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": "ENST00000886061.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.680delC",
"hgvs_p": "p.Ala227fs",
"transcript": "ENST00000681734.1",
"protein_id": "ENSP00000506177.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 267,
"cds_start": 680,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681734.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.680delC",
"hgvs_p": "p.Ala227fs",
"transcript": "ENST00000886057.1",
"protein_id": "ENSP00000556116.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 267,
"cds_start": 680,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886057.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.674delC",
"hgvs_p": "p.Ala225fs",
"transcript": "ENST00000886062.1",
"protein_id": "ENSP00000556121.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 265,
"cds_start": 674,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886062.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.632delC",
"hgvs_p": "p.Ala211fs",
"transcript": "ENST00000886058.1",
"protein_id": "ENSP00000556117.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 251,
"cds_start": 632,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886058.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.632delC",
"hgvs_p": "p.Ala211fs",
"transcript": "ENST00000969769.1",
"protein_id": "ENSP00000639828.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 251,
"cds_start": 632,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969769.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.632delC",
"hgvs_p": "p.Ala211fs",
"transcript": "ENST00000969772.1",
"protein_id": "ENSP00000639831.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 251,
"cds_start": 632,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969772.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.632delC",
"hgvs_p": "p.Ala211fs",
"transcript": "ENST00000969774.1",
"protein_id": "ENSP00000639833.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 251,
"cds_start": 632,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969774.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXE",
"gene_hgnc_id": 18453,
"hgvs_c": "c.629delC",
"hgvs_p": "p.Ala210fs",
"transcript": "ENST00000925438.1",
"protein_id": "ENSP00000595497.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 250,
"cds_start": 629,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925438.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
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"inheritance_mode": "AR",
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],
"clinvar_disease": " early-onset, progressive, with brain edema and/or leukoencephalopathy,Encephalopathy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}