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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: 4-25124081-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=25124081&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 25124081,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000382103.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "c.1356G>T",
"hgvs_p": "p.Lys452Asn",
"transcript": "NM_016955.4",
"protein_id": "NP_058651.3",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 501,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 5503,
"mane_select": "ENST00000382103.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "c.1356G>T",
"hgvs_p": "p.Lys452Asn",
"transcript": "ENST00000382103.7",
"protein_id": "ENSP00000371535.2",
"transcript_support_level": 1,
"aa_start": 452,
"aa_end": null,
"aa_length": 501,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 5503,
"mane_select": "NM_016955.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "n.*1154G>T",
"hgvs_p": null,
"transcript": "ENST00000358971.7",
"protein_id": "ENSP00000351857.3",
"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": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "n.*1057G>T",
"hgvs_p": null,
"transcript": "ENST00000514585.5",
"protein_id": "ENSP00000421880.1",
"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": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "n.*1154G>T",
"hgvs_p": null,
"transcript": "ENST00000358971.7",
"protein_id": "ENSP00000351857.3",
"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": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "n.*1057G>T",
"hgvs_p": null,
"transcript": "ENST00000514585.5",
"protein_id": "ENSP00000421880.1",
"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": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "c.1611G>T",
"hgvs_p": "p.Lys537Asn",
"transcript": "NM_001410714.1",
"protein_id": "NP_001397643.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 586,
"cds_start": 1611,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 5758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "c.1611G>T",
"hgvs_p": "p.Lys537Asn",
"transcript": "ENST00000681948.1",
"protein_id": "ENSP00000505991.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 586,
"cds_start": 1611,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 5802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "c.1353G>T",
"hgvs_p": "p.Lys451Asn",
"transcript": "XM_011513846.3",
"protein_id": "XP_011512148.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 500,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 5640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "c.1323G>T",
"hgvs_p": "p.Lys441Asn",
"transcript": "XM_011513847.3",
"protein_id": "XP_011512149.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 490,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1877,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "c.1176G>T",
"hgvs_p": "p.Lys392Asn",
"transcript": "XM_011513848.2",
"protein_id": "XP_011512150.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 441,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 5327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "c.1176G>T",
"hgvs_p": "p.Lys392Asn",
"transcript": "XM_047415762.1",
"protein_id": "XP_047271718.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 441,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 5347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "n.*258G>T",
"hgvs_p": null,
"transcript": "ENST00000503150.1",
"protein_id": "ENSP00000423850.1",
"transcript_support_level": 4,
"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": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "n.*230G>T",
"hgvs_p": null,
"transcript": "ENST00000680581.1",
"protein_id": "ENSP00000506483.1",
"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": 5441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "n.2572G>T",
"hgvs_p": null,
"transcript": "ENST00000680824.1",
"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": 6574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "n.1648G>T",
"hgvs_p": null,
"transcript": "ENST00000681071.1",
"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": 5646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "n.2403G>T",
"hgvs_p": null,
"transcript": "ENST00000681341.1",
"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": 6401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "n.712G>T",
"hgvs_p": null,
"transcript": "ENST00000681374.1",
"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": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "n.*258G>T",
"hgvs_p": null,
"transcript": "ENST00000503150.1",
"protein_id": "ENSP00000423850.1",
"transcript_support_level": 4,
"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": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"hgvs_c": "n.*230G>T",
"hgvs_p": null,
"transcript": "ENST00000680581.1",
"protein_id": "ENSP00000506483.1",
"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": 5441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SEPSECS",
"gene_hgnc_id": 30605,
"dbsnp": "rs2302566",
"frequency_reference_population": 6.8419575e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84196e-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": 0.5402384996414185,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.412,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3604,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.064,
"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": "ENST00000382103.7",
"gene_symbol": "SEPSECS",
"hgnc_id": 30605,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1356G>T",
"hgvs_p": "p.Lys452Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}