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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: 1-156876100-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156876100&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156876100,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002529.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508Trp",
"transcript": "NM_002529.4",
"protein_id": "NP_002520.2",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 796,
"cds_start": 1522,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000524377.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002529.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508Trp",
"transcript": "ENST00000524377.7",
"protein_id": "ENSP00000431418.1",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 796,
"cds_start": 1522,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002529.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524377.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "c.1504C>T",
"hgvs_p": "p.Arg502Trp",
"transcript": "ENST00000368196.7",
"protein_id": "ENSP00000357179.3",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 790,
"cds_start": 1504,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368196.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Arg505Trp",
"transcript": "ENST00000358660.3",
"protein_id": "ENSP00000351486.3",
"transcript_support_level": 2,
"aa_start": 505,
"aa_end": null,
"aa_length": 793,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358660.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "c.1504C>T",
"hgvs_p": "p.Arg502Trp",
"transcript": "NM_001012331.2",
"protein_id": "NP_001012331.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 790,
"cds_start": 1504,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012331.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "c.1414C>T",
"hgvs_p": "p.Arg472Trp",
"transcript": "NM_001007792.1",
"protein_id": "NP_001007793.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 760,
"cds_start": 1414,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007792.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Arg448Trp",
"transcript": "ENST00000392302.7",
"protein_id": "ENSP00000376120.3",
"transcript_support_level": 5,
"aa_start": 448,
"aa_end": null,
"aa_length": 736,
"cds_start": 1342,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392302.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Arg448Trp",
"transcript": "ENST00000674537.2",
"protein_id": "ENSP00000502725.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 736,
"cds_start": 1342,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674537.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "c.1204-300C>T",
"hgvs_p": null,
"transcript": "ENST00000956587.1",
"protein_id": "ENSP00000626646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": null,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956587.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "n.*114C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000497019.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "n.1975C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000530298.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "n.745C>T",
"hgvs_p": null,
"transcript": "ENST00000534682.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000534682.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"hgvs_c": "n.*114C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000497019.7"
}
],
"gene_symbol": "NTRK1",
"gene_hgnc_id": 8031,
"dbsnp": "rs200575096",
"frequency_reference_population": 0.00006877008,
"hom_count_reference_population": 1,
"allele_count_reference_population": 111,
"gnomad_exomes_af": 0.0000731932,
"gnomad_genomes_af": 0.0000262829,
"gnomad_exomes_ac": 107,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16411441564559937,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.484,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1238,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.105,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_002529.4",
"gene_symbol": "NTRK1",
"hgnc_id": 8031,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508Trp"
}
],
"clinvar_disease": "Hereditary insensitivity to pain with anhidrosis,Inborn genetic diseases,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "Hereditary insensitivity to pain with anhidrosis|Inborn genetic diseases|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}