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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: 14-92005874-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=92005874&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 92005874,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004239.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.2102A>G",
"hgvs_p": "p.Asn701Ser",
"transcript": "NM_004239.4",
"protein_id": "NP_004230.2",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 1979,
"cds_start": 2102,
"cds_end": null,
"cds_length": 5940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267622.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004239.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.2102A>G",
"hgvs_p": "p.Asn701Ser",
"transcript": "ENST00000267622.8",
"protein_id": "ENSP00000267622.4",
"transcript_support_level": 1,
"aa_start": 701,
"aa_end": null,
"aa_length": 1979,
"cds_start": 2102,
"cds_end": null,
"cds_length": 5940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004239.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267622.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.1247A>G",
"hgvs_p": "p.Asn416Ser",
"transcript": "ENST00000554357.5",
"protein_id": "ENSP00000451032.1",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 1694,
"cds_start": 1247,
"cds_end": null,
"cds_length": 5085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554357.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.2099A>G",
"hgvs_p": "p.Asn700Ser",
"transcript": "NM_001321851.1",
"protein_id": "NP_001308780.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1978,
"cds_start": 2099,
"cds_end": null,
"cds_length": 5937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321851.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.2099A>G",
"hgvs_p": "p.Asn700Ser",
"transcript": "ENST00000913145.1",
"protein_id": "ENSP00000583204.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1978,
"cds_start": 2099,
"cds_end": null,
"cds_length": 5937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913145.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.2033A>G",
"hgvs_p": "p.Asn678Ser",
"transcript": "ENST00000913147.1",
"protein_id": "ENSP00000583206.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 1956,
"cds_start": 2033,
"cds_end": null,
"cds_length": 5871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913147.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.1826A>G",
"hgvs_p": "p.Asn609Ser",
"transcript": "ENST00000913146.1",
"protein_id": "ENSP00000583205.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 1887,
"cds_start": 1826,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913146.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Asn259Ser",
"transcript": "XM_047431935.1",
"protein_id": "XP_047287891.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 1537,
"cds_start": 776,
"cds_end": null,
"cds_length": 4614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431935.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.1797+305A>G",
"hgvs_p": null,
"transcript": "ENST00000913148.1",
"protein_id": "ENSP00000583207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1059,
"cds_start": null,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913148.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.1527+1766A>G",
"hgvs_p": null,
"transcript": "ENST00000876362.1",
"protein_id": "ENSP00000546421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 969,
"cds_start": null,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876362.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.1314+5112A>G",
"hgvs_p": null,
"transcript": "ENST00000964015.1",
"protein_id": "ENSP00000634074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"cds_start": null,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964015.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.1251+1766A>G",
"hgvs_p": null,
"transcript": "ENST00000876363.1",
"protein_id": "ENSP00000546422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 877,
"cds_start": null,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876363.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.1228-5766A>G",
"hgvs_p": null,
"transcript": "ENST00000964014.1",
"protein_id": "ENSP00000634073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 869,
"cds_start": null,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964014.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "n.2476A>G",
"hgvs_p": null,
"transcript": "XR_001750598.3",
"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": "XR_001750598.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "n.2476A>G",
"hgvs_p": null,
"transcript": "XR_943560.3",
"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": "XR_943560.3"
}
],
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"dbsnp": "rs139539448",
"frequency_reference_population": 0.0033524572,
"hom_count_reference_population": 18,
"allele_count_reference_population": 5411,
"gnomad_exomes_af": 0.00348358,
"gnomad_genomes_af": 0.00209422,
"gnomad_exomes_ac": 5092,
"gnomad_genomes_ac": 319,
"gnomad_exomes_homalt": 15,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05875271558761597,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.037,
"revel_prediction": "Benign",
"alphamissense_score": 0.0616,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.634,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004239.4",
"gene_symbol": "TRIP11",
"hgnc_id": 12305,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2102A>G",
"hgvs_p": "p.Asn701Ser"
}
],
"clinvar_disease": " type IA,Achondrogenesis,Connective tissue disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:3",
"phenotype_combined": "Achondrogenesis, type IA|not provided|Connective tissue disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}