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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: 7-99188562-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99188562&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99188562,
"ref": "A",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001145715.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.638T>A",
"hgvs_p": "p.Ile213Asn",
"transcript": "NM_001145715.3",
"protein_id": "NP_001139187.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 516,
"cds_start": 638,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327442.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145715.3"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.638T>A",
"hgvs_p": "p.Ile213Asn",
"transcript": "ENST00000327442.7",
"protein_id": "ENSP00000330878.6",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 516,
"cds_start": 638,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145715.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327442.7"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.638T>A",
"hgvs_p": "p.Ile213Asn",
"transcript": "ENST00000681060.1",
"protein_id": "ENSP00000506489.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 516,
"cds_start": 638,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681060.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.638T>A",
"hgvs_p": "p.Ile213Asn",
"transcript": "ENST00000893183.1",
"protein_id": "ENSP00000563242.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 516,
"cds_start": 638,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893183.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.638T>A",
"hgvs_p": "p.Ile213Asn",
"transcript": "ENST00000893184.1",
"protein_id": "ENSP00000563243.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 455,
"cds_start": 638,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893184.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.719T>A",
"hgvs_p": "p.Ile240Asn",
"transcript": "XM_017012208.2",
"protein_id": "XP_016867697.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 548,
"cds_start": 719,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012208.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.707T>A",
"hgvs_p": "p.Ile236Asn",
"transcript": "XM_017012209.2",
"protein_id": "XP_016867698.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 544,
"cds_start": 707,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012209.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.719T>A",
"hgvs_p": "p.Ile240Asn",
"transcript": "XM_011516215.3",
"protein_id": "XP_011514517.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 543,
"cds_start": 719,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516215.3"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.686T>A",
"hgvs_p": "p.Ile229Asn",
"transcript": "XM_017012210.2",
"protein_id": "XP_016867699.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 537,
"cds_start": 686,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012210.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.719T>A",
"hgvs_p": "p.Ile240Asn",
"transcript": "XM_017012211.2",
"protein_id": "XP_016867700.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 522,
"cds_start": 719,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012211.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.638T>A",
"hgvs_p": "p.Ile213Asn",
"transcript": "XM_017012212.2",
"protein_id": "XP_016867701.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 521,
"cds_start": 638,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012212.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.638T>A",
"hgvs_p": "p.Ile213Asn",
"transcript": "XM_017012213.2",
"protein_id": "XP_016867702.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 521,
"cds_start": 638,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012213.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.638T>A",
"hgvs_p": "p.Ile213Asn",
"transcript": "XM_017012214.2",
"protein_id": "XP_016867703.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 521,
"cds_start": 638,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012214.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.719T>A",
"hgvs_p": "p.Ile240Asn",
"transcript": "XM_017012215.2",
"protein_id": "XP_016867704.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 487,
"cds_start": 719,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012215.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.350T>A",
"hgvs_p": "p.Ile117Asn",
"transcript": "XM_017012216.2",
"protein_id": "XP_016867705.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 425,
"cds_start": 350,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012216.2"
}
],
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"dbsnp": "rs1060502572",
"frequency_reference_population": 0.000008381528,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000857878,
"gnomad_genomes_af": 0.00000656901,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3392222225666046,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.328000009059906,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.276,
"revel_prediction": "Benign",
"alphamissense_score": 0.1845,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.447,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.24,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.630635273698857,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001145715.3",
"gene_symbol": "KPNA7",
"hgnc_id": 21839,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.638T>A",
"hgvs_p": "p.Ile213Asn"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}