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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: 11-126275000-G-GGAGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126275000&ref=G&alt=GGAGT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 126275000,
"ref": "G",
"alt": "GGAGT",
"effect": "frameshift_variant",
"transcript": "NM_001425160.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.612_615dupAGTG",
"hgvs_p": "p.Ala206fs",
"transcript": "NM_017547.4",
"protein_id": "NP_060017.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 486,
"cds_start": 616,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263578.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017547.4"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.612_615dupAGTG",
"hgvs_p": "p.Ala206fs",
"transcript": "ENST00000263578.10",
"protein_id": "ENSP00000263578.5",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 486,
"cds_start": 616,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017547.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263578.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "n.944-325_944-322dupAGTG",
"hgvs_p": null,
"transcript": "ENST00000534315.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000534315.5"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.642_645dupAGTG",
"hgvs_p": "p.Ala216fs",
"transcript": "NM_001425160.1",
"protein_id": "NP_001412089.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 496,
"cds_start": 646,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425160.1"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.642_645dupAGTG",
"hgvs_p": "p.Ala216fs",
"transcript": "ENST00000853296.1",
"protein_id": "ENSP00000523355.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 496,
"cds_start": 646,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853296.1"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.642_645dupAGTG",
"hgvs_p": "p.Ala216fs",
"transcript": "ENST00000853299.1",
"protein_id": "ENSP00000523358.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 495,
"cds_start": 646,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853299.1"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.636_639dupAGTG",
"hgvs_p": "p.Ala214fs",
"transcript": "ENST00000692336.1",
"protein_id": "ENSP00000508540.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 494,
"cds_start": 640,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692336.1"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.612_615dupAGTG",
"hgvs_p": "p.Ala206fs",
"transcript": "ENST00000853294.1",
"protein_id": "ENSP00000523353.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 492,
"cds_start": 616,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853294.1"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.609_612dupAGTG",
"hgvs_p": "p.Ala205fs",
"transcript": "ENST00000965172.1",
"protein_id": "ENSP00000635231.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 491,
"cds_start": 613,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965172.1"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.612_615dupAGTG",
"hgvs_p": "p.Ala206fs",
"transcript": "NM_001425161.1",
"protein_id": "NP_001412090.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 486,
"cds_start": 616,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425161.1"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.612_615dupAGTG",
"hgvs_p": "p.Ala206fs",
"transcript": "ENST00000914550.1",
"protein_id": "ENSP00000584609.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 486,
"cds_start": 616,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914550.1"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.612_615dupAGTG",
"hgvs_p": "p.Ala206fs",
"transcript": "NM_001425163.1",
"protein_id": "NP_001412092.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 485,
"cds_start": 616,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425163.1"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.609_612dupAGTG",
"hgvs_p": "p.Ala205fs",
"transcript": "NM_001425164.1",
"protein_id": "NP_001412093.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 485,
"cds_start": 613,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425164.1"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.609_612dupAGTG",
"hgvs_p": "p.Ala205fs",
"transcript": "ENST00000532125.2",
"protein_id": "ENSP00000434178.2",
"transcript_support_level": 2,
"aa_start": 205,
"aa_end": null,
"aa_length": 485,
"cds_start": 613,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532125.2"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.612_615dupAGTG",
"hgvs_p": "p.Ala206fs",
"transcript": "ENST00000853292.1",
"protein_id": "ENSP00000523351.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 485,
"cds_start": 616,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853292.1"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.609_612dupAGTG",
"hgvs_p": "p.Ala205fs",
"transcript": "ENST00000914554.1",
"protein_id": "ENSP00000584613.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 485,
"cds_start": 613,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914554.1"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.612_615dupAGTG",
"hgvs_p": "p.Ala206fs",
"transcript": "NM_001425165.1",
"protein_id": "NP_001412094.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 484,
"cds_start": 616,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425165.1"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.612_615dupAGTG",
"hgvs_p": "p.Ala206fs",
"transcript": "ENST00000965171.1",
"protein_id": "ENSP00000635230.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 484,
"cds_start": 616,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965171.1"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.609_612dupAGTG",
"hgvs_p": "p.Ala205fs",
"transcript": "ENST00000965178.1",
"protein_id": "ENSP00000635237.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 484,
"cds_start": 613,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965178.1"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.612_615dupAGTG",
"hgvs_p": "p.Ala206fs",
"transcript": "ENST00000965173.1",
"protein_id": "ENSP00000635232.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 474,
"cds_start": 616,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965173.1"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.612_615dupAGTG",
"hgvs_p": "p.Ala206fs",
"transcript": "NM_001425166.1",
"protein_id": "NP_001412095.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 470,
"cds_start": 616,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425166.1"
},
{
"aa_ref": "A",
"aa_alt": "SG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.612_615dupAGTG",
"hgvs_p": "p.Ala206fs",
"transcript": "ENST00000853291.1",
"protein_id": "ENSP00000523350.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 470,
"cds_start": 616,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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"benign_score": 0,
"pathogenic_score": 16,
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"clinvar_disease": " nuclear type 1, nuclear type 19,Inborn genetic diseases,Leigh syndrome,Mitochondrial complex I deficiency,Mitochondrial disease,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:13 LP:2",
"phenotype_combined": "not provided|Leigh syndrome|Mitochondrial complex I deficiency|Inborn genetic diseases|Mitochondrial complex I deficiency, nuclear type 1|Mitochondrial complex I deficiency, nuclear type 19|Mitochondrial disease",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}