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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: 7-100023754-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100023754&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100023754,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003439.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN1",
"gene_hgnc_id": 13101,
"hgvs_c": "c.248A>G",
"hgvs_p": "p.Gln83Arg",
"transcript": "NM_003439.4",
"protein_id": "NP_003430.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 563,
"cds_start": 248,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 9403,
"mane_select": "ENST00000324306.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN1",
"gene_hgnc_id": 13101,
"hgvs_c": "c.248A>G",
"hgvs_p": "p.Gln83Arg",
"transcript": "ENST00000324306.11",
"protein_id": "ENSP00000323148.6",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 563,
"cds_start": 248,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 9403,
"mane_select": "NM_003439.4",
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN1",
"gene_hgnc_id": 13101,
"hgvs_c": "n.464A>G",
"hgvs_p": null,
"transcript": "ENST00000482979.5",
"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": 1449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN1",
"gene_hgnc_id": 13101,
"hgvs_c": "c.248A>G",
"hgvs_p": "p.Gln83Arg",
"transcript": "NM_001346581.2",
"protein_id": "NP_001333510.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 563,
"cds_start": 248,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 9522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN1",
"gene_hgnc_id": 13101,
"hgvs_c": "c.140A>G",
"hgvs_p": "p.Gln47Arg",
"transcript": "NM_001287054.3",
"protein_id": "NP_001273983.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 527,
"cds_start": 140,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 9432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN1",
"gene_hgnc_id": 13101,
"hgvs_c": "c.140A>G",
"hgvs_p": "p.Gln47Arg",
"transcript": "NM_001346580.2",
"protein_id": "NP_001333509.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 527,
"cds_start": 140,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 9313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN1",
"gene_hgnc_id": 13101,
"hgvs_c": "c.140A>G",
"hgvs_p": "p.Gln47Arg",
"transcript": "ENST00000426572.5",
"protein_id": "ENSP00000409172.1",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 527,
"cds_start": 140,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN1",
"gene_hgnc_id": 13101,
"hgvs_c": "c.140A>G",
"hgvs_p": "p.Gln47Arg",
"transcript": "ENST00000620510.1",
"protein_id": "ENSP00000480305.1",
"transcript_support_level": 5,
"aa_start": 47,
"aa_end": null,
"aa_length": 527,
"cds_start": 140,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 9192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN1",
"gene_hgnc_id": 13101,
"hgvs_c": "c.248A>G",
"hgvs_p": "p.Gln83Arg",
"transcript": "NM_001346579.2",
"protein_id": "NP_001333508.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 321,
"cds_start": 248,
"cds_end": null,
"cds_length": 966,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN1",
"gene_hgnc_id": 13101,
"hgvs_c": "c.248A>G",
"hgvs_p": "p.Gln83Arg",
"transcript": "ENST00000432317.1",
"protein_id": "ENSP00000394445.1",
"transcript_support_level": 4,
"aa_start": 83,
"aa_end": null,
"aa_length": 124,
"cds_start": 248,
"cds_end": null,
"cds_length": 376,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN1",
"gene_hgnc_id": 13101,
"hgvs_c": "c.248A>G",
"hgvs_p": "p.Gln83Arg",
"transcript": "XM_047420803.1",
"protein_id": "XP_047276759.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 563,
"cds_start": 248,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 9432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN1",
"gene_hgnc_id": 13101,
"hgvs_c": "c.248A>G",
"hgvs_p": "p.Gln83Arg",
"transcript": "XM_047420804.1",
"protein_id": "XP_047276760.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 296,
"cds_start": 248,
"cds_end": null,
"cds_length": 891,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN1",
"gene_hgnc_id": 13101,
"hgvs_c": "c.248A>G",
"hgvs_p": "p.Gln83Arg",
"transcript": "XM_047420805.1",
"protein_id": "XP_047276761.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 267,
"cds_start": 248,
"cds_end": null,
"cds_length": 804,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 1366,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN1",
"gene_hgnc_id": 13101,
"hgvs_c": "n.467A>G",
"hgvs_p": null,
"transcript": "NR_144477.2",
"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": 9653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN1",
"gene_hgnc_id": 13101,
"hgvs_c": "c.-59-6107A>G",
"hgvs_p": null,
"transcript": "NM_001287055.3",
"protein_id": "NP_001273984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": -4,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN1",
"gene_hgnc_id": 13101,
"hgvs_c": "c.-59-6107A>G",
"hgvs_p": null,
"transcript": "ENST00000535170.5",
"protein_id": "ENSP00000443508.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": -4,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZKSCAN1",
"gene_hgnc_id": 13101,
"dbsnp": null,
"frequency_reference_population": 0.0000020521352,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205214,
"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": 0.45179182291030884,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.274,
"revel_prediction": "Benign",
"alphamissense_score": 0.123,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.677,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003439.4",
"gene_symbol": "ZKSCAN1",
"hgnc_id": 13101,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.248A>G",
"hgvs_p": "p.Gln83Arg"
}
],
"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
}