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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: 12-101764985-TG-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=101764985&ref=TG&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 101764985,
"ref": "TG",
"alt": "CA",
"effect": "missense_variant",
"transcript": "NM_024312.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTAB",
"gene_hgnc_id": 29670,
"hgvs_c": "c.1931_1932delCAinsTG",
"hgvs_p": "p.Thr644Met",
"transcript": "NM_024312.5",
"protein_id": "NP_077288.2",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 1256,
"cds_start": 1931,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299314.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024312.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTAB",
"gene_hgnc_id": 29670,
"hgvs_c": "c.1931_1932delCAinsTG",
"hgvs_p": "p.Thr644Met",
"transcript": "ENST00000299314.12",
"protein_id": "ENSP00000299314.7",
"transcript_support_level": 1,
"aa_start": 644,
"aa_end": null,
"aa_length": 1256,
"cds_start": 1931,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024312.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299314.12"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTAB",
"gene_hgnc_id": 29670,
"hgvs_c": "c.1952_1953delCAinsTG",
"hgvs_p": "p.Thr651Met",
"transcript": "ENST00000917136.1",
"protein_id": "ENSP00000587195.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 1263,
"cds_start": 1952,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917136.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTAB",
"gene_hgnc_id": 29670,
"hgvs_c": "c.1925_1926delCAinsTG",
"hgvs_p": "p.Thr642Met",
"transcript": "ENST00000917134.1",
"protein_id": "ENSP00000587193.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 1254,
"cds_start": 1925,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917134.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTAB",
"gene_hgnc_id": 29670,
"hgvs_c": "c.1811_1812delCAinsTG",
"hgvs_p": "p.Thr604Met",
"transcript": "ENST00000917133.1",
"protein_id": "ENSP00000587192.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 1216,
"cds_start": 1811,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917133.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTAB",
"gene_hgnc_id": 29670,
"hgvs_c": "c.1778_1779delCAinsTG",
"hgvs_p": "p.Thr593Met",
"transcript": "ENST00000917135.1",
"protein_id": "ENSP00000587194.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1205,
"cds_start": 1778,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917135.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTAB",
"gene_hgnc_id": 29670,
"hgvs_c": "c.1727_1728delCAinsTG",
"hgvs_p": "p.Thr576Met",
"transcript": "ENST00000953730.1",
"protein_id": "ENSP00000623789.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1727,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953730.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTAB",
"gene_hgnc_id": 29670,
"hgvs_c": "c.1850_1851delCAinsTG",
"hgvs_p": "p.Thr617Met",
"transcript": "XM_011538731.3",
"protein_id": "XP_011537033.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 1229,
"cds_start": 1850,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538731.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTAB",
"gene_hgnc_id": 29670,
"hgvs_c": "c.1931_1932delCAinsTG",
"hgvs_p": "p.Thr644Met",
"transcript": "XM_006719593.4",
"protein_id": "XP_006719656.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 1179,
"cds_start": 1931,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719593.4"
}
],
"gene_symbol": "GNPTAB",
"gene_hgnc_id": 29670,
"dbsnp": "rs386765812",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.465,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_024312.5",
"gene_symbol": "GNPTAB",
"hgnc_id": 29670,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1931_1932delCAinsTG",
"hgvs_p": "p.Thr644Met"
}
],
"clinvar_disease": "Mucolipidosis type II,Pseudo-Hurler polydystrophy,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not specified|not provided|Mucolipidosis type II;Pseudo-Hurler polydystrophy",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}