← Back to variant description
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: 7-64706890-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=64706890&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 64706890,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001282359.2",
"consequences": [
{
"aa_ref": "A",
"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": "ZNF107",
"gene_hgnc_id": 12887,
"hgvs_c": "c.793G>T",
"hgvs_p": "p.Ala265Ser",
"transcript": "NM_001282359.2",
"protein_id": "NP_001269288.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 852,
"cds_start": 793,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 5630,
"mane_select": "ENST00000620827.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"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": "ZNF107",
"gene_hgnc_id": 12887,
"hgvs_c": "c.793G>T",
"hgvs_p": "p.Ala265Ser",
"transcript": "ENST00000620827.6",
"protein_id": "ENSP00000483720.1",
"transcript_support_level": 4,
"aa_start": 265,
"aa_end": null,
"aa_length": 852,
"cds_start": 793,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 5630,
"mane_select": "NM_001282359.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF107",
"gene_hgnc_id": 12887,
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Ala196Ser",
"transcript": "ENST00000344930.7",
"protein_id": "ENSP00000343443.3",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 783,
"cds_start": 586,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 5174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF107",
"gene_hgnc_id": 12887,
"hgvs_c": "n.*773G>T",
"hgvs_p": null,
"transcript": "ENST00000395391.2",
"protein_id": "ENSP00000378789.2",
"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": 4831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF107",
"gene_hgnc_id": 12887,
"hgvs_c": "n.*773G>T",
"hgvs_p": null,
"transcript": "ENST00000395391.2",
"protein_id": "ENSP00000378789.2",
"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": 4831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"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": "ZNF107",
"gene_hgnc_id": 12887,
"hgvs_c": "c.925G>T",
"hgvs_p": "p.Ala309Ser",
"transcript": "NM_001388025.1",
"protein_id": "NP_001374954.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 896,
"cds_start": 925,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 5899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF107",
"gene_hgnc_id": 12887,
"hgvs_c": "c.808G>T",
"hgvs_p": "p.Ala270Ser",
"transcript": "NM_001388026.1",
"protein_id": "NP_001374955.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 857,
"cds_start": 808,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 5772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF107",
"gene_hgnc_id": 12887,
"hgvs_c": "c.697G>T",
"hgvs_p": "p.Ala233Ser",
"transcript": "NM_001282360.2",
"protein_id": "NP_001269289.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 820,
"cds_start": 697,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 5534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF107",
"gene_hgnc_id": 12887,
"hgvs_c": "c.697G>T",
"hgvs_p": "p.Ala233Ser",
"transcript": "ENST00000613690.5",
"protein_id": "ENSP00000481898.1",
"transcript_support_level": 5,
"aa_start": 233,
"aa_end": null,
"aa_length": 820,
"cds_start": 697,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 2612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF107",
"gene_hgnc_id": 12887,
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Ala196Ser",
"transcript": "NM_001013746.3",
"protein_id": "NP_001013768.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 783,
"cds_start": 586,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 5790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"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": "ZNF107",
"gene_hgnc_id": 12887,
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Ala196Ser",
"transcript": "NM_016220.5",
"protein_id": "NP_057304.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 783,
"cds_start": 586,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 6059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"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": "ZNF107",
"gene_hgnc_id": 12887,
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Ala196Ser",
"transcript": "ENST00000423627.6",
"protein_id": "ENSP00000400037.1",
"transcript_support_level": 5,
"aa_start": 196,
"aa_end": null,
"aa_length": 783,
"cds_start": 586,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 5142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"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": "ZNF107",
"gene_hgnc_id": 12887,
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Ala196Ser",
"transcript": "XM_017012286.2",
"protein_id": "XP_016867775.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 783,
"cds_start": 586,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 9627,
"cdna_end": null,
"cdna_length": 14314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF107",
"gene_hgnc_id": 12887,
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Ala196Ser",
"transcript": "XM_047420451.1",
"protein_id": "XP_047276407.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 783,
"cds_start": 586,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 9498,
"cdna_end": null,
"cdna_length": 14185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF107",
"gene_hgnc_id": 12887,
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Ala196Ser",
"transcript": "XM_047420452.1",
"protein_id": "XP_047276408.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 783,
"cds_start": 586,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 5681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF107",
"gene_hgnc_id": 12887,
"hgvs_c": "n.1961G>T",
"hgvs_p": null,
"transcript": "ENST00000682671.1",
"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": 6094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF107",
"gene_hgnc_id": 12887,
"dbsnp": "rs769120990",
"frequency_reference_population": 0.0000012398688,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84457e-7,
"gnomad_genomes_af": 0.00000657626,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10272714495658875,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.1135,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.671,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001282359.2",
"gene_symbol": "ZNF107",
"hgnc_id": 12887,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.793G>T",
"hgvs_p": "p.Ala265Ser"
}
],
"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
}