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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: 2-196769985-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=196769985&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 196769985,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_012086.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C3",
"gene_hgnc_id": 4666,
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Cys772Ser",
"transcript": "NM_012086.5",
"protein_id": "NP_036218.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 886,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263956.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012086.5"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C3",
"gene_hgnc_id": 4666,
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Cys772Ser",
"transcript": "ENST00000263956.8",
"protein_id": "ENSP00000263956.3",
"transcript_support_level": 1,
"aa_start": 772,
"aa_end": null,
"aa_length": 886,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012086.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263956.8"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C3",
"gene_hgnc_id": 4666,
"hgvs_c": "c.2342G>C",
"hgvs_p": "p.Cys781Ser",
"transcript": "ENST00000929329.1",
"protein_id": "ENSP00000599388.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 895,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929329.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C3",
"gene_hgnc_id": 4666,
"hgvs_c": "c.2339G>C",
"hgvs_p": "p.Cys780Ser",
"transcript": "ENST00000929328.1",
"protein_id": "ENSP00000599387.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 894,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929328.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C3",
"gene_hgnc_id": 4666,
"hgvs_c": "c.2312G>C",
"hgvs_p": "p.Cys771Ser",
"transcript": "ENST00000929326.1",
"protein_id": "ENSP00000599385.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 885,
"cds_start": 2312,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929326.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C3",
"gene_hgnc_id": 4666,
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Cys772Ser",
"transcript": "ENST00000897140.1",
"protein_id": "ENSP00000567199.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 884,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897140.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C3",
"gene_hgnc_id": 4666,
"hgvs_c": "c.2282G>C",
"hgvs_p": "p.Cys761Ser",
"transcript": "ENST00000897139.1",
"protein_id": "ENSP00000567198.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 875,
"cds_start": 2282,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897139.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C3",
"gene_hgnc_id": 4666,
"hgvs_c": "c.2228G>C",
"hgvs_p": "p.Cys743Ser",
"transcript": "ENST00000897141.1",
"protein_id": "ENSP00000567200.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 857,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897141.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C3",
"gene_hgnc_id": 4666,
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Cys772Ser",
"transcript": "ENST00000897138.1",
"protein_id": "ENSP00000567197.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 835,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897138.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C3",
"gene_hgnc_id": 4666,
"hgvs_c": "c.2114G>C",
"hgvs_p": "p.Cys705Ser",
"transcript": "ENST00000929327.1",
"protein_id": "ENSP00000599386.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 819,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929327.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C3",
"gene_hgnc_id": 4666,
"hgvs_c": "c.2228G>C",
"hgvs_p": "p.Cys743Ser",
"transcript": "ENST00000951329.1",
"protein_id": "ENSP00000621388.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 806,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951329.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C3",
"gene_hgnc_id": 4666,
"hgvs_c": "c.1874G>C",
"hgvs_p": "p.Cys625Ser",
"transcript": "ENST00000897137.1",
"protein_id": "ENSP00000567196.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 739,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897137.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C3",
"gene_hgnc_id": 4666,
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Cys380Ser",
"transcript": "XM_005246965.5",
"protein_id": "XP_005247022.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 494,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246965.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C3",
"gene_hgnc_id": 4666,
"hgvs_c": "n.*647G>C",
"hgvs_p": null,
"transcript": "ENST00000651042.1",
"protein_id": "ENSP00000499170.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000651042.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C3",
"gene_hgnc_id": 4666,
"hgvs_c": "n.*647G>C",
"hgvs_p": null,
"transcript": "ENST00000651042.1",
"protein_id": "ENSP00000499170.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000651042.1"
}
],
"gene_symbol": "GTF3C3",
"gene_hgnc_id": 4666,
"dbsnp": "rs377095367",
"frequency_reference_population": 0.000016318538,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000173475,
"gnomad_genomes_af": 0.00000657246,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7809767127037048,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.201,
"revel_prediction": "Benign",
"alphamissense_score": 0.5281,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.43,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012086.5",
"gene_symbol": "GTF3C3",
"hgnc_id": 4666,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Cys772Ser"
}
],
"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
}