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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: 12-6870355-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6870355&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6870355,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001159287.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Phe241Ser",
"transcript": "NM_000365.6",
"protein_id": "NP_000356.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 249,
"cds_start": 722,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396705.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000365.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Phe241Ser",
"transcript": "ENST00000396705.10",
"protein_id": "ENSP00000379933.4",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 249,
"cds_start": 722,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000365.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396705.10"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Phe278Ser",
"transcript": "ENST00000229270.8",
"protein_id": "ENSP00000229270.4",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 286,
"cds_start": 833,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229270.8"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Phe278Ser",
"transcript": "ENST00000613953.4",
"protein_id": "ENSP00000484435.1",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 286,
"cds_start": 833,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613953.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "n.211T>C",
"hgvs_p": null,
"transcript": "ENST00000474253.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000474253.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Phe278Ser",
"transcript": "NM_001159287.1",
"protein_id": "NP_001152759.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 286,
"cds_start": 833,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159287.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Phe246Ser",
"transcript": "ENST00000854164.1",
"protein_id": "ENSP00000524223.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 254,
"cds_start": 737,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854164.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.716T>C",
"hgvs_p": "p.Phe239Ser",
"transcript": "ENST00000854165.1",
"protein_id": "ENSP00000524224.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 247,
"cds_start": 716,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854165.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Phe237Ser",
"transcript": "ENST00000854166.1",
"protein_id": "ENSP00000524225.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 245,
"cds_start": 710,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854166.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.707T>C",
"hgvs_p": "p.Phe236Ser",
"transcript": "ENST00000934760.1",
"protein_id": "ENSP00000604819.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 244,
"cds_start": 707,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934760.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.704T>C",
"hgvs_p": "p.Phe235Ser",
"transcript": "ENST00000948630.1",
"protein_id": "ENSP00000618689.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 243,
"cds_start": 704,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948630.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.680T>C",
"hgvs_p": "p.Phe227Ser",
"transcript": "ENST00000854169.1",
"protein_id": "ENSP00000524228.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 235,
"cds_start": 680,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854169.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Phe223Ser",
"transcript": "ENST00000854168.1",
"protein_id": "ENSP00000524227.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 231,
"cds_start": 668,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854168.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.653T>C",
"hgvs_p": "p.Phe218Ser",
"transcript": "ENST00000934762.1",
"protein_id": "ENSP00000604821.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 226,
"cds_start": 653,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934762.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.605T>C",
"hgvs_p": "p.Phe202Ser",
"transcript": "ENST00000854167.1",
"protein_id": "ENSP00000524226.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 210,
"cds_start": 605,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854167.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.587T>C",
"hgvs_p": "p.Phe196Ser",
"transcript": "ENST00000948631.1",
"protein_id": "ENSP00000618690.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 204,
"cds_start": 587,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948631.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Phe159Ser",
"transcript": "NM_001258026.2",
"protein_id": "NP_001244955.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 167,
"cds_start": 476,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258026.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Phe159Ser",
"transcript": "ENST00000488464.6",
"protein_id": "ENSP00000475620.1",
"transcript_support_level": 5,
"aa_start": 159,
"aa_end": null,
"aa_length": 167,
"cds_start": 476,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488464.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Phe159Ser",
"transcript": "ENST00000535434.5",
"protein_id": "ENSP00000443599.1",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 167,
"cds_start": 476,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535434.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Phe127Ser",
"transcript": "ENST00000934761.1",
"protein_id": "ENSP00000604820.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 135,
"cds_start": 380,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934761.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "n.*218T>C",
"hgvs_p": null,
"transcript": "ENST00000482209.1",
"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": "ENST00000482209.1"
}
],
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"dbsnp": "rs587777440",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9811887741088867,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.959,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9952,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.983,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001159287.1",
"gene_symbol": "TPI1",
"hgnc_id": 12009,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Phe278Ser"
}
],
"clinvar_disease": "Triosephosphate isomerase deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Triosephosphate isomerase deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}