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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: 10-46003293-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=46003293&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 46003293,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006327.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"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.605G>C",
"hgvs_p": "p.Gly202Ala",
"transcript": "NM_006327.4",
"protein_id": "NP_006318.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 209,
"cds_start": 605,
"cds_end": null,
"cds_length": 630,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 1190,
"mane_select": "ENST00000580018.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006327.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.605G>C",
"hgvs_p": "p.Gly202Ala",
"transcript": "ENST00000580018.4",
"protein_id": "ENSP00000464522.3",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 209,
"cds_start": 605,
"cds_end": null,
"cds_length": 630,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 1190,
"mane_select": "NM_006327.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580018.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.761G>C",
"hgvs_p": "p.Gly254Ala",
"transcript": "ENST00000904353.1",
"protein_id": "ENSP00000574412.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 261,
"cds_start": 761,
"cds_end": null,
"cds_length": 786,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 1327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904353.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.698G>C",
"hgvs_p": "p.Gly233Ala",
"transcript": "ENST00000904350.1",
"protein_id": "ENSP00000574409.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 240,
"cds_start": 698,
"cds_end": null,
"cds_length": 723,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904350.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.680G>C",
"hgvs_p": "p.Gly227Ala",
"transcript": "ENST00000904352.1",
"protein_id": "ENSP00000574411.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 234,
"cds_start": 680,
"cds_end": null,
"cds_length": 705,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904352.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.641G>C",
"hgvs_p": "p.Gly214Ala",
"transcript": "ENST00000904356.1",
"protein_id": "ENSP00000574415.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 221,
"cds_start": 641,
"cds_end": null,
"cds_length": 666,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904356.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.587G>C",
"hgvs_p": "p.Gly196Ala",
"transcript": "ENST00000933868.1",
"protein_id": "ENSP00000603927.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 203,
"cds_start": 587,
"cds_end": null,
"cds_length": 612,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 1161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933868.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.572G>C",
"hgvs_p": "p.Gly191Ala",
"transcript": "ENST00000904354.1",
"protein_id": "ENSP00000574413.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 198,
"cds_start": 572,
"cds_end": null,
"cds_length": 597,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 1131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904354.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.569G>C",
"hgvs_p": "p.Gly190Ala",
"transcript": "ENST00000933870.1",
"protein_id": "ENSP00000603929.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 197,
"cds_start": 569,
"cds_end": null,
"cds_length": 594,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 1104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933870.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.533G>C",
"hgvs_p": "p.Gly178Ala",
"transcript": "ENST00000904351.1",
"protein_id": "ENSP00000574410.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 185,
"cds_start": 533,
"cds_end": null,
"cds_length": 558,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 1104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904351.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.494G>C",
"hgvs_p": "p.Gly165Ala",
"transcript": "ENST00000904357.1",
"protein_id": "ENSP00000574416.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 172,
"cds_start": 494,
"cds_end": null,
"cds_length": 519,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904357.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.461G>C",
"hgvs_p": "p.Gly154Ala",
"transcript": "ENST00000933866.1",
"protein_id": "ENSP00000603925.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 161,
"cds_start": 461,
"cds_end": null,
"cds_length": 486,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 1043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933866.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.452G>C",
"hgvs_p": "p.Gly151Ala",
"transcript": "ENST00000933869.1",
"protein_id": "ENSP00000603928.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 158,
"cds_start": 452,
"cds_end": null,
"cds_length": 477,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933869.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.428G>C",
"hgvs_p": "p.Gly143Ala",
"transcript": "ENST00000933867.1",
"protein_id": "ENSP00000603926.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 150,
"cds_start": 428,
"cds_end": null,
"cds_length": 453,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 1009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933867.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.308G>C",
"hgvs_p": "p.Gly103Ala",
"transcript": "ENST00000904355.1",
"protein_id": "ENSP00000574414.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 110,
"cds_start": 308,
"cds_end": null,
"cds_length": 333,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904355.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.197G>C",
"hgvs_p": "p.Gly66Ala",
"transcript": "ENST00000904349.1",
"protein_id": "ENSP00000574408.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 73,
"cds_start": 197,
"cds_end": null,
"cds_length": 222,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904349.1"
},
{
"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.865G>C",
"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": 1314,
"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.682G>C",
"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": 1131,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_073030.2"
}
],
"gene_symbol": "TIMM23",
"gene_hgnc_id": 17312,
"dbsnp": "rs150556806",
"frequency_reference_population": 0.00019518253,
"hom_count_reference_population": 0,
"allele_count_reference_population": 315,
"gnomad_exomes_af": 0.000204556,
"gnomad_genomes_af": 0.000105146,
"gnomad_exomes_ac": 299,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24338701367378235,
"computational_prediction_selected": "Benign",
"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": 0.0989,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.489,
"phylop100way_prediction": "Uncertain_significance",
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_006327.4",
"gene_symbol": "TIMM23",
"hgnc_id": 17312,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.605G>C",
"hgvs_p": "p.Gly202Ala"
}
],
"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
}