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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: 15-43598839-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43598839&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 43598839,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000441322.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Pro342Ser",
"transcript": "NM_001375484.1",
"protein_id": "NP_001362413.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 417,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": "ENST00000441322.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Pro342Ser",
"transcript": "ENST00000441322.6",
"protein_id": "ENSP00000413255.2",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 417,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": "NM_001375484.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Pro342Ser",
"transcript": "NM_020990.5",
"protein_id": "NP_066270.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 417,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 1976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Pro342Ser",
"transcript": "ENST00000300283.10",
"protein_id": "ENSP00000300283.6",
"transcript_support_level": 5,
"aa_start": 342,
"aa_end": null,
"aa_length": 417,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1117C>T",
"hgvs_p": "p.Pro373Ser",
"transcript": "XM_011521194.2",
"protein_id": "XP_011519496.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 448,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1117C>T",
"hgvs_p": "p.Pro373Ser",
"transcript": "XM_011521195.3",
"protein_id": "XP_011519497.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 448,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1117C>T",
"hgvs_p": "p.Pro373Ser",
"transcript": "XM_011521196.2",
"protein_id": "XP_011519498.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 448,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Pro342Ser",
"transcript": "XM_047432132.1",
"protein_id": "XP_047288088.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 417,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Pro342Ser",
"transcript": "XM_047432133.1",
"protein_id": "XP_047288089.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 417,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Pro183Ser",
"transcript": "XM_005254150.5",
"protein_id": "XP_005254207.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 258,
"cds_start": 547,
"cds_end": null,
"cds_length": 777,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 990,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "n.*944C>T",
"hgvs_p": null,
"transcript": "ENST00000437534.3",
"protein_id": "ENSP00000416717.1",
"transcript_support_level": 2,
"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": 2396,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "n.2479C>T",
"hgvs_p": null,
"transcript": "NR_135748.1",
"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": 2842,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "n.2459C>T",
"hgvs_p": null,
"transcript": "NR_135749.1",
"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": 2822,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "n.2430C>T",
"hgvs_p": null,
"transcript": "NR_135750.2",
"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": 2793,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "n.2319C>T",
"hgvs_p": null,
"transcript": "NR_135751.1",
"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": 2682,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "n.2086C>T",
"hgvs_p": null,
"transcript": "NR_135752.1",
"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": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "n.*944C>T",
"hgvs_p": null,
"transcript": "ENST00000437534.3",
"protein_id": "ENSP00000416717.1",
"transcript_support_level": 2,
"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": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"dbsnp": "rs912613433",
"frequency_reference_population": 0.0000049758855,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000342912,
"gnomad_genomes_af": 0.000020046,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1137475073337555,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.234,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000441322.6",
"gene_symbol": "CKMT1B",
"hgnc_id": 1995,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Pro342Ser"
}
],
"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
}