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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: 1-156868145-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156868145&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156868145,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000524377.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"transcript": "NM_002529.4",
"protein_id": "NP_002520.2",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 796,
"cds_start": 470,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": "ENST00000524377.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"transcript": "ENST00000524377.7",
"protein_id": "ENSP00000431418.1",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 796,
"cds_start": 470,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": "NM_002529.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"transcript": "ENST00000368196.7",
"protein_id": "ENSP00000357179.3",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 790,
"cds_start": 470,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"transcript": "ENST00000358660.3",
"protein_id": "ENSP00000351486.3",
"transcript_support_level": 2,
"aa_start": 157,
"aa_end": null,
"aa_length": 793,
"cds_start": 470,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"transcript": "NM_001012331.2",
"protein_id": "NP_001012331.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 790,
"cds_start": 470,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "c.380G>T",
"hgvs_p": "p.Arg127Leu",
"transcript": "NM_001007792.1",
"protein_id": "NP_001007793.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 760,
"cds_start": 380,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "c.308G>T",
"hgvs_p": "p.Arg103Leu",
"transcript": "ENST00000392302.7",
"protein_id": "ENSP00000376120.3",
"transcript_support_level": 5,
"aa_start": 103,
"aa_end": null,
"aa_length": 736,
"cds_start": 308,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 2665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "c.308G>T",
"hgvs_p": "p.Arg103Leu",
"transcript": "ENST00000674537.2",
"protein_id": "ENSP00000502725.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 736,
"cds_start": 308,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 2825,
"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": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "n.308G>T",
"hgvs_p": null,
"transcript": "ENST00000497019.7",
"protein_id": "ENSP00000436804.2",
"transcript_support_level": 2,
"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": 2508,
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "n.528G>T",
"hgvs_p": null,
"transcript": "ENST00000530298.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "n.313-5488G>T",
"hgvs_p": null,
"transcript": "ENST00000489021.6",
"protein_id": null,
"transcript_support_level": 4,
"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": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"dbsnp": "rs141021604",
"frequency_reference_population": 0.000009914832,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000102632,
"gnomad_genomes_af": 0.00000656961,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12295225262641907,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.301,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0647,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.755,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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": "ENST00000524377.7",
"gene_symbol": "NTRK1",
"hgnc_id": 8031,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu"
}
],
"clinvar_disease": "Hereditary insensitivity to pain with anhidrosis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hereditary insensitivity to pain with anhidrosis",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}