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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: 7-92307483-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=92307483&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 92307483,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_019004.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKIB1",
"gene_hgnc_id": 22215,
"hgvs_c": "c.313C>A",
"hgvs_p": "p.Arg105Ser",
"transcript": "NM_019004.2",
"protein_id": "NP_061877.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1089,
"cds_start": 313,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 6340,
"mane_select": "ENST00000265742.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019004.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKIB1",
"gene_hgnc_id": 22215,
"hgvs_c": "c.313C>A",
"hgvs_p": "p.Arg105Ser",
"transcript": "ENST00000265742.8",
"protein_id": "ENSP00000265742.3",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 1089,
"cds_start": 313,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 6340,
"mane_select": "NM_019004.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265742.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKIB1",
"gene_hgnc_id": 22215,
"hgvs_c": "c.313C>A",
"hgvs_p": "p.Arg105Ser",
"transcript": "ENST00000908968.1",
"protein_id": "ENSP00000579027.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1109,
"cds_start": 313,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908968.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKIB1",
"gene_hgnc_id": 22215,
"hgvs_c": "c.313C>A",
"hgvs_p": "p.Arg105Ser",
"transcript": "ENST00000927529.1",
"protein_id": "ENSP00000597588.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1089,
"cds_start": 313,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 6002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927529.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKIB1",
"gene_hgnc_id": 22215,
"hgvs_c": "c.313C>A",
"hgvs_p": "p.Arg105Ser",
"transcript": "ENST00000927530.1",
"protein_id": "ENSP00000597589.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1089,
"cds_start": 313,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 5656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927530.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKIB1",
"gene_hgnc_id": 22215,
"hgvs_c": "c.313C>A",
"hgvs_p": "p.Arg105Ser",
"transcript": "ENST00000908967.1",
"protein_id": "ENSP00000579026.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1083,
"cds_start": 313,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 5278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908967.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKIB1",
"gene_hgnc_id": 22215,
"hgvs_c": "c.313C>A",
"hgvs_p": "p.Arg105Ser",
"transcript": "ENST00000908970.1",
"protein_id": "ENSP00000579029.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1060,
"cds_start": 313,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 3937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908970.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKIB1",
"gene_hgnc_id": 22215,
"hgvs_c": "c.313C>A",
"hgvs_p": "p.Arg105Ser",
"transcript": "ENST00000908969.1",
"protein_id": "ENSP00000579028.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1059,
"cds_start": 313,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908969.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKIB1",
"gene_hgnc_id": 22215,
"hgvs_c": "c.313C>A",
"hgvs_p": "p.Arg105Ser",
"transcript": "ENST00000908966.1",
"protein_id": "ENSP00000579025.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1054,
"cds_start": 313,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 6234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908966.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKIB1",
"gene_hgnc_id": 22215,
"hgvs_c": "c.313C>A",
"hgvs_p": "p.Arg105Ser",
"transcript": "ENST00000927528.1",
"protein_id": "ENSP00000597587.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1028,
"cds_start": 313,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 6826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927528.1"
},
{
"aa_ref": "R",
"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": "ANKIB1",
"gene_hgnc_id": 22215,
"hgvs_c": "c.313C>A",
"hgvs_p": "p.Arg105Ser",
"transcript": "ENST00000442183.1",
"protein_id": "ENSP00000407002.1",
"transcript_support_level": 4,
"aa_start": 105,
"aa_end": null,
"aa_length": 133,
"cds_start": 313,
"cds_end": null,
"cds_length": 402,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442183.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKIB1",
"gene_hgnc_id": 22215,
"hgvs_c": "n.124C>A",
"hgvs_p": null,
"transcript": "ENST00000439883.1",
"protein_id": "ENSP00000407913.1",
"transcript_support_level": 3,
"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": 774,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000439883.1"
}
],
"gene_symbol": "ANKIB1",
"gene_hgnc_id": 22215,
"dbsnp": "rs773827836",
"frequency_reference_population": 6.841499e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8415e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4131080210208893,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.254,
"revel_prediction": "Benign",
"alphamissense_score": 0.499,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.019,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_019004.2",
"gene_symbol": "ANKIB1",
"hgnc_id": 22215,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.313C>A",
"hgvs_p": "p.Arg105Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}