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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: 3-49256282-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49256282&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49256282,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_178173.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IHO1",
"gene_hgnc_id": 27945,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ser262Leu",
"transcript": "NM_001135197.2",
"protein_id": "NP_001128669.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 594,
"cds_start": 785,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000452691.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135197.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IHO1",
"gene_hgnc_id": 27945,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ser262Leu",
"transcript": "ENST00000452691.7",
"protein_id": "ENSP00000407837.2",
"transcript_support_level": 2,
"aa_start": 262,
"aa_end": null,
"aa_length": 594,
"cds_start": 785,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001135197.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452691.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IHO1",
"gene_hgnc_id": 27945,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ser262Leu",
"transcript": "ENST00000296449.9",
"protein_id": "ENSP00000296449.5",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 594,
"cds_start": 785,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296449.9"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IHO1",
"gene_hgnc_id": 27945,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ser262Leu",
"transcript": "NM_178173.4",
"protein_id": "NP_835467.2",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 594,
"cds_start": 785,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178173.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IHO1",
"gene_hgnc_id": 27945,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ser262Leu",
"transcript": "ENST00000438782.5",
"protein_id": "ENSP00000391788.1",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 594,
"cds_start": 785,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438782.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IHO1",
"gene_hgnc_id": 27945,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ser262Leu",
"transcript": "ENST00000909984.1",
"protein_id": "ENSP00000580043.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 594,
"cds_start": 785,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909984.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IHO1",
"gene_hgnc_id": 27945,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ser262Leu",
"transcript": "ENST00000961111.1",
"protein_id": "ENSP00000631170.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 594,
"cds_start": 785,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961111.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "IHO1",
"gene_hgnc_id": 27945,
"hgvs_c": "c.806C>T",
"hgvs_p": "p.Ser269Leu",
"transcript": "XM_011533670.3",
"protein_id": "XP_011531972.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 601,
"cds_start": 806,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533670.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "IHO1",
"gene_hgnc_id": 27945,
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Ser267Leu",
"transcript": "XM_011533671.3",
"protein_id": "XP_011531973.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 599,
"cds_start": 800,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533671.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IHO1",
"gene_hgnc_id": 27945,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ser262Leu",
"transcript": "XM_006713124.4",
"protein_id": "XP_006713187.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 594,
"cds_start": 785,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713124.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IHO1",
"gene_hgnc_id": 27945,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ser262Leu",
"transcript": "XM_011533672.3",
"protein_id": "XP_011531974.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 594,
"cds_start": 785,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533672.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IHO1",
"gene_hgnc_id": 27945,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ser262Leu",
"transcript": "XM_011533673.3",
"protein_id": "XP_011531975.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 594,
"cds_start": 785,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533673.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IHO1",
"gene_hgnc_id": 27945,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ser262Leu",
"transcript": "XM_047448068.1",
"protein_id": "XP_047304024.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 594,
"cds_start": 785,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448068.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "IHO1",
"gene_hgnc_id": 27945,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Leu",
"transcript": "XM_047448069.1",
"protein_id": "XP_047304025.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 396,
"cds_start": 191,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448069.1"
}
],
"gene_symbol": "IHO1",
"gene_hgnc_id": 27945,
"dbsnp": "rs2046820621",
"frequency_reference_population": 0.0000013681014,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05992680788040161,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.1024,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.424,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_178173.4",
"gene_symbol": "IHO1",
"hgnc_id": 27945,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ser262Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}