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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: 9-132990980-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132990980&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 132990980,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000372122.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.923T>C",
"hgvs_p": "p.Leu308Pro",
"transcript": "NM_001377304.1",
"protein_id": "NP_001364233.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 330,
"cds_start": 923,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": "ENST00000372122.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.923T>C",
"hgvs_p": "p.Leu308Pro",
"transcript": "ENST00000372122.4",
"protein_id": "ENSP00000361195.1",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 330,
"cds_start": 923,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": "NM_001377304.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.923T>C",
"hgvs_p": "p.Leu308Pro",
"transcript": "ENST00000339463.7",
"protein_id": "ENSP00000344782.3",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 330,
"cds_start": 923,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.1019T>C",
"hgvs_p": "p.Leu340Pro",
"transcript": "ENST00000636263.1",
"protein_id": "ENSP00000489646.1",
"transcript_support_level": 5,
"aa_start": 340,
"aa_end": null,
"aa_length": 362,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 1604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Leu330Pro",
"transcript": "NM_001371908.1",
"protein_id": "NP_001358837.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 352,
"cds_start": 989,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Leu330Pro",
"transcript": "ENST00000636137.1",
"protein_id": "ENSP00000490303.1",
"transcript_support_level": 5,
"aa_start": 330,
"aa_end": null,
"aa_length": 352,
"cds_start": 989,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.923T>C",
"hgvs_p": "p.Leu308Pro",
"transcript": "NM_004188.8",
"protein_id": "NP_004179.3",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 330,
"cds_start": 923,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.785T>C",
"hgvs_p": "p.Leu262Pro",
"transcript": "NM_001135031.2",
"protein_id": "NP_001128503.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 284,
"cds_start": 785,
"cds_end": null,
"cds_length": 855,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 1660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.785T>C",
"hgvs_p": "p.Leu262Pro",
"transcript": "NM_001377305.1",
"protein_id": "NP_001364234.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 284,
"cds_start": 785,
"cds_end": null,
"cds_length": 855,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.785T>C",
"hgvs_p": "p.Leu262Pro",
"transcript": "ENST00000372123.5",
"protein_id": "ENSP00000361196.1",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 284,
"cds_start": 785,
"cds_end": null,
"cds_length": 855,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Leu330Pro",
"transcript": "XM_006717297.4",
"protein_id": "XP_006717360.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 352,
"cds_start": 989,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "n.1157T>C",
"hgvs_p": null,
"transcript": "XR_007061360.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.*223T>C",
"hgvs_p": null,
"transcript": "XM_047423942.1",
"protein_id": "XP_047279898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": -4,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"dbsnp": "rs775963992",
"frequency_reference_population": 0.000002478189,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205225,
"gnomad_genomes_af": 0.0000065672,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6015079021453857,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.288,
"revel_prediction": "Benign",
"alphamissense_score": 0.9635,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.09,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000372122.4",
"gene_symbol": "GFI1B",
"hgnc_id": 4238,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.923T>C",
"hgvs_p": "p.Leu308Pro"
}
],
"clinvar_disease": "Platelet-type bleeding disorder 17,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Platelet-type bleeding disorder 17|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}