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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: 17-61869798-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=61869798&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 61869798,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020748.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.2969G>A",
"hgvs_p": "p.Cys990Tyr",
"transcript": "NM_001351695.2",
"protein_id": "NP_001338624.2",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000251334.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351695.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.2969G>A",
"hgvs_p": "p.Cys990Tyr",
"transcript": "ENST00000251334.7",
"protein_id": "ENSP00000251334.6",
"transcript_support_level": 2,
"aa_start": 990,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001351695.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251334.7"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.2993G>A",
"hgvs_p": "p.Cys998Tyr",
"transcript": "ENST00000444766.7",
"protein_id": "ENSP00000414237.3",
"transcript_support_level": 1,
"aa_start": 998,
"aa_end": null,
"aa_length": 1204,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444766.7"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.2993G>A",
"hgvs_p": "p.Cys998Tyr",
"transcript": "NM_020748.4",
"protein_id": "NP_065799.2",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1204,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020748.4"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.2969G>A",
"hgvs_p": "p.Cys990Tyr",
"transcript": "NM_001330417.2",
"protein_id": "NP_001317346.2",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330417.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.2969G>A",
"hgvs_p": "p.Cys990Tyr",
"transcript": "ENST00000647009.1",
"protein_id": "ENSP00000496407.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647009.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.2969G>A",
"hgvs_p": "p.Cys990Tyr",
"transcript": "ENST00000866719.1",
"protein_id": "ENSP00000536778.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866719.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.2969G>A",
"hgvs_p": "p.Cys990Tyr",
"transcript": "ENST00000963385.1",
"protein_id": "ENSP00000633444.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963385.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.2888G>A",
"hgvs_p": "p.Cys963Tyr",
"transcript": "ENST00000866720.1",
"protein_id": "ENSP00000536779.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1169,
"cds_start": 2888,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866720.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.2969G>A",
"hgvs_p": "p.Cys990Tyr",
"transcript": "ENST00000913656.1",
"protein_id": "ENSP00000583715.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913656.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.2855G>A",
"hgvs_p": "p.Cys952Tyr",
"transcript": "ENST00000866721.1",
"protein_id": "ENSP00000536780.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1158,
"cds_start": 2855,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866721.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.2855G>A",
"hgvs_p": "p.Cys952Tyr",
"transcript": "ENST00000913653.1",
"protein_id": "ENSP00000583712.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1158,
"cds_start": 2855,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913653.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.2855G>A",
"hgvs_p": "p.Cys952Tyr",
"transcript": "ENST00000913654.1",
"protein_id": "ENSP00000583713.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1158,
"cds_start": 2855,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913654.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.2834G>A",
"hgvs_p": "p.Cys945Tyr",
"transcript": "ENST00000963386.1",
"protein_id": "ENSP00000633445.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1151,
"cds_start": 2834,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963386.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.2081G>A",
"hgvs_p": "p.Cys694Tyr",
"transcript": "ENST00000913652.1",
"protein_id": "ENSP00000583711.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 900,
"cds_start": 2081,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913652.1"
},
{
"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": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.2952+17G>A",
"hgvs_p": null,
"transcript": "ENST00000913655.1",
"protein_id": "ENSP00000583714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1170,
"cds_start": null,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913655.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "n.*2490G>A",
"hgvs_p": null,
"transcript": "ENST00000646745.1",
"protein_id": "ENSP00000495976.1",
"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": "ENST00000646745.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "n.*2490G>A",
"hgvs_p": null,
"transcript": "ENST00000646745.1",
"protein_id": "ENSP00000495976.1",
"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": "ENST00000646745.1"
}
],
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"dbsnp": null,
"frequency_reference_population": 0.0000020526013,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000020526,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.86769700050354,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.587,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9838,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.537,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020748.4",
"gene_symbol": "INTS2",
"hgnc_id": 29241,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2993G>A",
"hgvs_p": "p.Cys998Tyr"
}
],
"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
}