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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: 3-142496523-AAAGGAAGT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=142496523&ref=AAAGGAAGT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 142496523,
"ref": "AAAGGAAGT",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000350721.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"hgvs_c": "c.5739-11_5739-4delACTTCCTT",
"hgvs_p": null,
"transcript": "NM_001184.4",
"protein_id": "NP_001175.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2644,
"cds_start": -4,
"cds_end": null,
"cds_length": 7935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8158,
"mane_select": "ENST00000350721.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"hgvs_c": "c.5739-11_5739-4delACTTCCTT",
"hgvs_p": null,
"transcript": "ENST00000350721.9",
"protein_id": "ENSP00000343741.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2644,
"cds_start": -4,
"cds_end": null,
"cds_length": 7935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8158,
"mane_select": "NM_001184.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"hgvs_c": "n.923-11_923-4delACTTCCTT",
"hgvs_p": null,
"transcript": "ENST00000513291.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 6835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"hgvs_c": "c.5547-11_5547-4delACTTCCTT",
"hgvs_p": null,
"transcript": "NM_001354579.2",
"protein_id": "NP_001341508.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2580,
"cds_start": -4,
"cds_end": null,
"cds_length": 7743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"hgvs_c": "c.5547-11_5547-4delACTTCCTT",
"hgvs_p": null,
"transcript": "ENST00000661310.1",
"protein_id": "ENSP00000499589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2580,
"cds_start": -4,
"cds_end": null,
"cds_length": 7743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"hgvs_c": "n.714-11_714-4delACTTCCTT",
"hgvs_p": null,
"transcript": "ENST00000507620.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"hgvs_c": "n.422-11_422-4delACTTCCTT",
"hgvs_p": null,
"transcript": "ENST00000514393.5",
"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": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"hgvs_c": "n.5768-11_5768-4delACTTCCTT",
"hgvs_p": null,
"transcript": "ENST00000653868.1",
"protein_id": null,
"transcript_support_level": null,
"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": 8096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"hgvs_c": "n.4527-11_4527-4delACTTCCTT",
"hgvs_p": null,
"transcript": "ENST00000656590.1",
"protein_id": "ENSP00000499225.1",
"transcript_support_level": null,
"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": 7056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"hgvs_c": "n.1203-11_1203-4delACTTCCTT",
"hgvs_p": null,
"transcript": "ENST00000666943.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"hgvs_c": "c.5745-11_5745-4delACTTCCTT",
"hgvs_p": null,
"transcript": "XM_011512924.2",
"protein_id": "XP_011511226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2646,
"cds_start": -4,
"cds_end": null,
"cds_length": 7941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"hgvs_c": "c.5745-11_5745-4delACTTCCTT",
"hgvs_p": null,
"transcript": "XM_047448360.1",
"protein_id": "XP_047304316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2612,
"cds_start": -4,
"cds_end": null,
"cds_length": 7839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"hgvs_c": "c.5745-11_5745-4delACTTCCTT",
"hgvs_p": null,
"transcript": "XM_047448361.1",
"protein_id": "XP_047304317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2598,
"cds_start": -4,
"cds_end": null,
"cds_length": 7797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"hgvs_c": "c.5553-11_5553-4delACTTCCTT",
"hgvs_p": null,
"transcript": "XM_011512925.2",
"protein_id": "XP_011511227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2582,
"cds_start": -4,
"cds_end": null,
"cds_length": 7749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"hgvs_c": "c.5745-11_5745-4delACTTCCTT",
"hgvs_p": null,
"transcript": "XM_047448362.1",
"protein_id": "XP_047304318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2082,
"cds_start": -4,
"cds_end": null,
"cds_length": 6249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"hgvs_c": "c.5739-11_5739-4delACTTCCTT",
"hgvs_p": null,
"transcript": "XM_047448363.1",
"protein_id": "XP_047304319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2080,
"cds_start": -4,
"cds_end": null,
"cds_length": 6243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"hgvs_c": "c.5624-11_5624-4delACTTCCTT",
"hgvs_p": null,
"transcript": "XM_047448364.1",
"protein_id": "XP_047304320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1891,
"cds_start": -4,
"cds_end": null,
"cds_length": 5676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATR",
"gene_hgnc_id": 882,
"dbsnp": "rs797045404",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.944,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP6",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000350721.9",
"gene_symbol": "ATR",
"hgnc_id": 882,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.5739-11_5739-4delACTTCCTT",
"hgvs_p": null
}
],
"clinvar_disease": "Hereditary cancer,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1 B:1",
"phenotype_combined": "not specified|not provided|Hereditary cancer",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}