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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: 9-113390798-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=113390798&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 113390798,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001003945.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "NM_000031.6",
"protein_id": "NP_000022.3",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 330,
"cds_start": 397,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409155.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000031.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000409155.8",
"protein_id": "ENSP00000386284.3",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 330,
"cds_start": 397,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000031.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409155.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"transcript": "NM_001003945.3",
"protein_id": "NP_001003945.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 359,
"cds_start": 484,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003945.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Gly154Arg",
"transcript": "ENST00000907374.1",
"protein_id": "ENSP00000577433.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 351,
"cds_start": 460,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907374.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000907359.1",
"protein_id": "ENSP00000577418.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 349,
"cds_start": 397,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907359.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000907390.1",
"protein_id": "ENSP00000577449.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 349,
"cds_start": 397,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907390.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000907376.1",
"protein_id": "ENSP00000577435.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 339,
"cds_start": 397,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907376.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000907389.1",
"protein_id": "ENSP00000577448.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 339,
"cds_start": 397,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907389.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Val133Ile",
"transcript": "ENST00000954349.1",
"protein_id": "ENSP00000624408.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 335,
"cds_start": 397,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954349.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000907358.1",
"protein_id": "ENSP00000577417.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 330,
"cds_start": 397,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907358.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000907360.1",
"protein_id": "ENSP00000577419.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 330,
"cds_start": 397,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907360.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000907361.1",
"protein_id": "ENSP00000577420.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 330,
"cds_start": 397,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907361.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000907362.1",
"protein_id": "ENSP00000577421.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 330,
"cds_start": 397,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907362.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000907363.1",
"protein_id": "ENSP00000577422.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 330,
"cds_start": 397,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907363.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000907364.1",
"protein_id": "ENSP00000577423.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 330,
"cds_start": 397,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907364.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000907366.1",
"protein_id": "ENSP00000577425.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 330,
"cds_start": 397,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907366.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000907368.1",
"protein_id": "ENSP00000577427.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 330,
"cds_start": 397,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907368.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000907370.1",
"protein_id": "ENSP00000577429.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 330,
"cds_start": 397,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907370.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000907371.1",
"protein_id": "ENSP00000577430.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 330,
"cds_start": 397,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907371.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000907372.1",
"protein_id": "ENSP00000577431.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 330,
"cds_start": 397,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907372.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000907373.1",
"protein_id": "ENSP00000577432.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 330,
"cds_start": 397,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907373.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000907375.1",
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],
"clinvar_disease": "Porphobilinogen synthase deficiency,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:3",
"phenotype_combined": "Porphobilinogen synthase deficiency|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}