← Back to variant description
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: 4-107644975-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=107644975&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 107644975,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005443.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPSS1",
"gene_hgnc_id": 8603,
"hgvs_c": "c.1333C>G",
"hgvs_p": "p.Arg445Gly",
"transcript": "NM_005443.5",
"protein_id": "NP_005434.4",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 624,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": "ENST00000265174.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005443.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPSS1",
"gene_hgnc_id": 8603,
"hgvs_c": "c.1333C>G",
"hgvs_p": "p.Arg445Gly",
"transcript": "ENST00000265174.5",
"protein_id": "ENSP00000265174.4",
"transcript_support_level": 1,
"aa_start": 445,
"aa_end": null,
"aa_length": 624,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": "NM_005443.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265174.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPSS1",
"gene_hgnc_id": 8603,
"hgvs_c": "c.1402C>G",
"hgvs_p": "p.Arg468Gly",
"transcript": "ENST00000873396.1",
"protein_id": "ENSP00000543455.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 647,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873396.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPSS1",
"gene_hgnc_id": 8603,
"hgvs_c": "c.1330C>G",
"hgvs_p": "p.Arg444Gly",
"transcript": "ENST00000970503.1",
"protein_id": "ENSP00000640562.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 623,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970503.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPSS1",
"gene_hgnc_id": 8603,
"hgvs_c": "c.1333C>G",
"hgvs_p": "p.Arg445Gly",
"transcript": "ENST00000931561.1",
"protein_id": "ENSP00000601620.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 622,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 2525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931561.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPSS1",
"gene_hgnc_id": 8603,
"hgvs_c": "c.1324C>G",
"hgvs_p": "p.Arg442Gly",
"transcript": "ENST00000931560.1",
"protein_id": "ENSP00000601619.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 621,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931560.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPSS1",
"gene_hgnc_id": 8603,
"hgvs_c": "c.1321C>G",
"hgvs_p": "p.Arg441Gly",
"transcript": "ENST00000970505.1",
"protein_id": "ENSP00000640564.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 620,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970505.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPSS1",
"gene_hgnc_id": 8603,
"hgvs_c": "c.1279C>G",
"hgvs_p": "p.Arg427Gly",
"transcript": "ENST00000970504.1",
"protein_id": "ENSP00000640563.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 606,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970504.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPSS1",
"gene_hgnc_id": 8603,
"hgvs_c": "c.880C>G",
"hgvs_p": "p.Arg294Gly",
"transcript": "ENST00000931559.1",
"protein_id": "ENSP00000601618.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 473,
"cds_start": 880,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931559.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPSS1",
"gene_hgnc_id": 8603,
"hgvs_c": "c.700C>G",
"hgvs_p": "p.Arg234Gly",
"transcript": "ENST00000931563.1",
"protein_id": "ENSP00000601622.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 413,
"cds_start": 700,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931563.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPSS1",
"gene_hgnc_id": 8603,
"hgvs_c": "c.1270C>G",
"hgvs_p": "p.Arg424Gly",
"transcript": "XM_011532400.3",
"protein_id": "XP_011530702.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 603,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532400.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPSS1",
"gene_hgnc_id": 8603,
"hgvs_c": "c.1270C>G",
"hgvs_p": "p.Arg424Gly",
"transcript": "XM_011532401.2",
"protein_id": "XP_011530703.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 603,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532401.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PAPSS1",
"gene_hgnc_id": 8603,
"hgvs_c": "c.670-13115C>G",
"hgvs_p": null,
"transcript": "ENST00000931562.1",
"protein_id": "ENSP00000601621.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": null,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931562.1"
}
],
"gene_symbol": "PAPSS1",
"gene_hgnc_id": 8603,
"dbsnp": "rs199838116",
"frequency_reference_population": 6.843465e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84347e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3303109109401703,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.181,
"revel_prediction": "Benign",
"alphamissense_score": 0.2042,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.775,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005443.5",
"gene_symbol": "PAPSS1",
"hgnc_id": 8603,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1333C>G",
"hgvs_p": "p.Arg445Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}