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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: 1-77558660-C-CTATTAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=77558660&ref=C&alt=CTATTAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "AK5",
"hgnc_id": 365,
"hgvs_c": "c.1683_1684insATATT",
"hgvs_p": "p.Phe562fs",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_174858.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCTATTA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "IF?",
"aa_end": null,
"aa_length": 562,
"aa_ref": "F",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 1979,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1684,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_174858.3",
"gene_hgnc_id": 365,
"gene_symbol": "AK5",
"hgvs_c": "c.1683_1684insATATT",
"hgvs_p": "p.Phe562fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354567.7",
"protein_coding": true,
"protein_id": "NP_777283.1",
"strand": true,
"transcript": "NM_174858.3",
"transcript_support_level": null
},
{
"aa_alt": "IF?",
"aa_end": null,
"aa_length": 562,
"aa_ref": "F",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 1979,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1684,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000354567.7",
"gene_hgnc_id": 365,
"gene_symbol": "AK5",
"hgvs_c": "c.1683_1684insATATT",
"hgvs_p": "p.Phe562fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_174858.3",
"protein_coding": true,
"protein_id": "ENSP00000346577.2",
"strand": true,
"transcript": "ENST00000354567.7",
"transcript_support_level": 1
},
{
"aa_alt": "IF?",
"aa_end": null,
"aa_length": 536,
"aa_ref": "F",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3929,
"cdna_start": 2632,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1606,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000344720.9",
"gene_hgnc_id": 365,
"gene_symbol": "AK5",
"hgvs_c": "c.1605_1606insATATT",
"hgvs_p": "p.Phe536fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341430.5",
"strand": true,
"transcript": "ENST00000344720.9",
"transcript_support_level": 1
},
{
"aa_alt": "IF?",
"aa_end": null,
"aa_length": 536,
"aa_ref": "F",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3448,
"cdna_start": 2147,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1606,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_012093.4",
"gene_hgnc_id": 365,
"gene_symbol": "AK5",
"hgvs_c": "c.1605_1606insATATT",
"hgvs_p": "p.Phe536fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_036225.2",
"strand": true,
"transcript": "NM_012093.4",
"transcript_support_level": null
},
{
"aa_alt": "IF?",
"aa_end": null,
"aa_length": 77,
"aa_ref": "F",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 556,
"cdna_start": 490,
"cds_end": null,
"cds_length": 234,
"cds_start": 229,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000478255.1",
"gene_hgnc_id": 365,
"gene_symbol": "AK5",
"hgvs_c": "c.228_229insATATT",
"hgvs_p": "p.Phe77fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433915.1",
"strand": true,
"transcript": "ENST00000478255.1",
"transcript_support_level": 2
},
{
"aa_alt": "IF?",
"aa_end": null,
"aa_length": 538,
"aa_ref": "F",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3208,
"cdna_start": 1907,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1612,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_005270739.6",
"gene_hgnc_id": 365,
"gene_symbol": "AK5",
"hgvs_c": "c.1611_1612insATATT",
"hgvs_p": "p.Phe538fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005270796.1",
"strand": true,
"transcript": "XM_005270739.6",
"transcript_support_level": null
},
{
"aa_alt": "IF?",
"aa_end": null,
"aa_length": 536,
"aa_ref": "F",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3022,
"cdna_start": 1721,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1606,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_006710572.4",
"gene_hgnc_id": 365,
"gene_symbol": "AK5",
"hgvs_c": "c.1605_1606insATATT",
"hgvs_p": "p.Phe536fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006710635.1",
"strand": true,
"transcript": "XM_006710572.4",
"transcript_support_level": null
},
{
"aa_alt": "IF?",
"aa_end": null,
"aa_length": 536,
"aa_ref": "F",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 1751,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1606,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017001008.3",
"gene_hgnc_id": 365,
"gene_symbol": "AK5",
"hgvs_c": "c.1605_1606insATATT",
"hgvs_p": "p.Phe536fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856497.1",
"strand": true,
"transcript": "XM_017001008.3",
"transcript_support_level": null
},
{
"aa_alt": "IF?",
"aa_end": null,
"aa_length": 536,
"aa_ref": "F",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
"cdna_start": 1788,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1606,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047417721.1",
"gene_hgnc_id": 365,
"gene_symbol": "AK5",
"hgvs_c": "c.1605_1606insATATT",
"hgvs_p": "p.Phe536fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273677.1",
"strand": true,
"transcript": "XM_047417721.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 324,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000466393.1",
"gene_hgnc_id": 365,
"gene_symbol": "AK5",
"hgvs_c": "n.257_258insATATT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000466393.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 381,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000527263.1",
"gene_hgnc_id": 365,
"gene_symbol": "AK5",
"hgvs_c": "n.*128_*129insATATT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436859.1",
"strand": true,
"transcript": "ENST00000527263.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 221,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000531672.1",
"gene_hgnc_id": 365,
"gene_symbol": "AK5",
"hgvs_c": "n.149_150insATATT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000531672.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 381,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000527263.1",
"gene_hgnc_id": 365,
"gene_symbol": "AK5",
"hgvs_c": "n.*128_*129insATATT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436859.1",
"strand": true,
"transcript": "ENST00000527263.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs6485",
"effect": "frameshift_variant",
"frequency_reference_population": 6.940926e-7,
"gene_hgnc_id": 365,
"gene_symbol": "AK5",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.94093e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.185,
"pos": 77558659,
"ref": "TC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_174858.3"
}
]
}