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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: 10-46003218-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=46003218&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 46003218,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006327.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "R",
"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": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "c.530T>G",
"hgvs_p": "p.Ile177Arg",
"transcript": "NM_006327.4",
"protein_id": "NP_006318.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 209,
"cds_start": 530,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000580018.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006327.4"
},
{
"aa_ref": "I",
"aa_alt": "R",
"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": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "c.530T>G",
"hgvs_p": "p.Ile177Arg",
"transcript": "ENST00000580018.4",
"protein_id": "ENSP00000464522.3",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 209,
"cds_start": 530,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006327.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580018.4"
},
{
"aa_ref": "I",
"aa_alt": "R",
"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": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "c.686T>G",
"hgvs_p": "p.Ile229Arg",
"transcript": "ENST00000904353.1",
"protein_id": "ENSP00000574412.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 261,
"cds_start": 686,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904353.1"
},
{
"aa_ref": "I",
"aa_alt": "R",
"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": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "c.623T>G",
"hgvs_p": "p.Ile208Arg",
"transcript": "ENST00000904350.1",
"protein_id": "ENSP00000574409.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 240,
"cds_start": 623,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904350.1"
},
{
"aa_ref": "I",
"aa_alt": "R",
"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": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "c.605T>G",
"hgvs_p": "p.Ile202Arg",
"transcript": "ENST00000904352.1",
"protein_id": "ENSP00000574411.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 234,
"cds_start": 605,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904352.1"
},
{
"aa_ref": "I",
"aa_alt": "R",
"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": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "c.566T>G",
"hgvs_p": "p.Ile189Arg",
"transcript": "ENST00000904356.1",
"protein_id": "ENSP00000574415.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 221,
"cds_start": 566,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904356.1"
},
{
"aa_ref": "I",
"aa_alt": "R",
"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": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "c.497T>G",
"hgvs_p": "p.Ile166Arg",
"transcript": "ENST00000904354.1",
"protein_id": "ENSP00000574413.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 497,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904354.1"
},
{
"aa_ref": "I",
"aa_alt": "R",
"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": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "c.494T>G",
"hgvs_p": "p.Ile165Arg",
"transcript": "ENST00000933870.1",
"protein_id": "ENSP00000603929.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 197,
"cds_start": 494,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933870.1"
},
{
"aa_ref": "I",
"aa_alt": "R",
"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": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "c.458T>G",
"hgvs_p": "p.Ile153Arg",
"transcript": "ENST00000904351.1",
"protein_id": "ENSP00000574410.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 185,
"cds_start": 458,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904351.1"
},
{
"aa_ref": "I",
"aa_alt": "R",
"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": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "c.419T>G",
"hgvs_p": "p.Ile140Arg",
"transcript": "ENST00000904357.1",
"protein_id": "ENSP00000574416.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 172,
"cds_start": 419,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904357.1"
},
{
"aa_ref": "I",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "c.386T>G",
"hgvs_p": "p.Ile129Arg",
"transcript": "ENST00000933866.1",
"protein_id": "ENSP00000603925.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 161,
"cds_start": 386,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933866.1"
},
{
"aa_ref": "I",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "c.377T>G",
"hgvs_p": "p.Ile126Arg",
"transcript": "ENST00000933869.1",
"protein_id": "ENSP00000603928.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 158,
"cds_start": 377,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933869.1"
},
{
"aa_ref": "I",
"aa_alt": "R",
"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": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "c.353T>G",
"hgvs_p": "p.Ile118Arg",
"transcript": "ENST00000933867.1",
"protein_id": "ENSP00000603926.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 150,
"cds_start": 353,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933867.1"
},
{
"aa_ref": "I",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "c.233T>G",
"hgvs_p": "p.Ile78Arg",
"transcript": "ENST00000904355.1",
"protein_id": "ENSP00000574414.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 110,
"cds_start": 233,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904355.1"
},
{
"aa_ref": "I",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "c.122T>G",
"hgvs_p": "p.Ile41Arg",
"transcript": "ENST00000904349.1",
"protein_id": "ENSP00000574408.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 73,
"cds_start": 122,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904349.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "c.515-3T>G",
"hgvs_p": null,
"transcript": "ENST00000933868.1",
"protein_id": "ENSP00000603927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": null,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933868.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "n.790T>G",
"hgvs_p": null,
"transcript": "NR_073029.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_073029.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM23",
"gene_hgnc_id": 17312,
"hgvs_c": "n.607T>G",
"hgvs_p": null,
"transcript": "NR_073030.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_073030.2"
}
],
"gene_symbol": "TIMM23",
"gene_hgnc_id": 17312,
"dbsnp": "rs782410805",
"frequency_reference_population": 6.841059e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84106e-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": 0.44776326417922974,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.8983,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.371,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006327.4",
"gene_symbol": "TIMM23",
"hgnc_id": 17312,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.530T>G",
"hgvs_p": "p.Ile177Arg"
}
],
"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
}