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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: 1-161169070-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161169070&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161169070,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000309.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Gly232Arg",
"transcript": "NM_001122764.3",
"protein_id": "NP_001116236.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 477,
"cds_start": 694,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367999.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122764.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Gly232Arg",
"transcript": "ENST00000367999.9",
"protein_id": "ENSP00000356978.4",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 477,
"cds_start": 694,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001122764.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367999.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Gly232Arg",
"transcript": "ENST00000352210.9",
"protein_id": "ENSP00000343943.5",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 477,
"cds_start": 694,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352210.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"transcript": "ENST00000881040.1",
"protein_id": "ENSP00000551099.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 544,
"cds_start": 895,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881040.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.697G>C",
"hgvs_p": "p.Gly233Arg",
"transcript": "ENST00000881038.1",
"protein_id": "ENSP00000551097.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 478,
"cds_start": 697,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881038.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.697G>C",
"hgvs_p": "p.Gly233Arg",
"transcript": "ENST00000881039.1",
"protein_id": "ENSP00000551098.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 478,
"cds_start": 697,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881039.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Gly232Arg",
"transcript": "NM_000309.5",
"protein_id": "NP_000300.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 477,
"cds_start": 694,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000309.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Gly232Arg",
"transcript": "NM_001365398.1",
"protein_id": "NP_001352327.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 477,
"cds_start": 694,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365398.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Gly232Arg",
"transcript": "ENST00000881045.1",
"protein_id": "ENSP00000551104.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 477,
"cds_start": 694,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881045.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Gly232Arg",
"transcript": "ENST00000881046.1",
"protein_id": "ENSP00000551105.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 477,
"cds_start": 694,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881046.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Gly232Arg",
"transcript": "ENST00000971241.1",
"protein_id": "ENSP00000641300.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 477,
"cds_start": 694,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971241.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.676G>C",
"hgvs_p": "p.Gly226Arg",
"transcript": "ENST00000971244.1",
"protein_id": "ENSP00000641303.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 471,
"cds_start": 676,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971244.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.676G>C",
"hgvs_p": "p.Gly226Arg",
"transcript": "ENST00000971249.1",
"protein_id": "ENSP00000641308.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 471,
"cds_start": 676,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971249.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Gly232Arg",
"transcript": "ENST00000923443.1",
"protein_id": "ENSP00000593502.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 457,
"cds_start": 694,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923443.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Gly232Arg",
"transcript": "ENST00000881043.1",
"protein_id": "ENSP00000551102.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 450,
"cds_start": 694,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881043.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Gly232Arg",
"transcript": "ENST00000971245.1",
"protein_id": "ENSP00000641304.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 450,
"cds_start": 694,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971245.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.595G>C",
"hgvs_p": "p.Gly199Arg",
"transcript": "NM_001350128.2",
"protein_id": "NP_001337057.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 444,
"cds_start": 595,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350128.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Gly197Arg",
"transcript": "ENST00000923441.1",
"protein_id": "ENSP00000593500.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 442,
"cds_start": 589,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923441.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Gly232Arg",
"transcript": "NM_001365399.1",
"protein_id": "NP_001352328.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 440,
"cds_start": 694,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365399.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.580G>C",
"hgvs_p": "p.Gly194Arg",
"transcript": "ENST00000881036.1",
"protein_id": "ENSP00000551095.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 439,
"cds_start": 580,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881036.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.580G>C",
"hgvs_p": "p.Gly194Arg",
"transcript": "ENST00000881044.1",
"protein_id": "ENSP00000551103.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 439,
"cds_start": 580,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881044.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Gly192Arg",
"transcript": "ENST00000923447.1",
"protein_id": "ENSP00000593506.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 437,
"cds_start": 574,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923447.1"
},
{
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"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_000309.5",
"gene_symbol": "PPOX",
"hgnc_id": 9280,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,SD,AR",
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Gly232Arg"
}
],
"clinvar_disease": "Variegate porphyria,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Variegate porphyria|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}