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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: 7-99185010-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99185010&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99185010,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000327442.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Asn351Asn",
"transcript": "NM_001145715.3",
"protein_id": "NP_001139187.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 516,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": "ENST00000327442.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Asn351Asn",
"transcript": "ENST00000327442.7",
"protein_id": "ENSP00000330878.6",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 516,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": "NM_001145715.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Asn351Asn",
"transcript": "ENST00000681060.1",
"protein_id": "ENSP00000506489.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 516,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"transcript": "XM_017012208.2",
"protein_id": "XP_016867697.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 548,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.1122C>T",
"hgvs_p": "p.Asn374Asn",
"transcript": "XM_017012209.2",
"protein_id": "XP_016867698.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 544,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"transcript": "XM_011516215.3",
"protein_id": "XP_011514517.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 543,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.1101C>T",
"hgvs_p": "p.Asn367Asn",
"transcript": "XM_017012210.2",
"protein_id": "XP_016867699.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 537,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"transcript": "XM_017012211.2",
"protein_id": "XP_016867700.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 522,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 2067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Asn351Asn",
"transcript": "XM_017012212.2",
"protein_id": "XP_016867701.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 521,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Asn351Asn",
"transcript": "XM_017012213.2",
"protein_id": "XP_016867702.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 521,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Asn351Asn",
"transcript": "XM_017012214.2",
"protein_id": "XP_016867703.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 521,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"transcript": "XM_017012215.2",
"protein_id": "XP_016867704.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 487,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"hgvs_c": "c.765C>T",
"hgvs_p": "p.Asn255Asn",
"transcript": "XM_017012216.2",
"protein_id": "XP_016867705.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 425,
"cds_start": 765,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 2346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KPNA7",
"gene_hgnc_id": 21839,
"dbsnp": "rs112225309",
"frequency_reference_population": 0.00021006724,
"hom_count_reference_population": 2,
"allele_count_reference_population": 326,
"gnomad_exomes_af": 0.000107172,
"gnomad_genomes_af": 0.00115586,
"gnomad_exomes_ac": 150,
"gnomad_genomes_ac": 176,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.257,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000327442.7",
"gene_symbol": "KPNA7",
"hgnc_id": 21839,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Asn351Asn"
}
],
"clinvar_disease": "KPNA7-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|KPNA7-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}