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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: 7-100600763-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100600763&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100600763,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000241071.11",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO24",
"gene_hgnc_id": 13595,
"hgvs_c": "c.1607C>G",
"hgvs_p": "p.Thr536Arg",
"transcript": "NM_033506.3",
"protein_id": "NP_277041.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 580,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": "ENST00000241071.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO24",
"gene_hgnc_id": 13595,
"hgvs_c": "c.1607C>G",
"hgvs_p": "p.Thr536Arg",
"transcript": "ENST00000241071.11",
"protein_id": "ENSP00000241071.6",
"transcript_support_level": 1,
"aa_start": 536,
"aa_end": null,
"aa_length": 580,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": "NM_033506.3",
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO24",
"gene_hgnc_id": 13595,
"hgvs_c": "n.*882C>G",
"hgvs_p": null,
"transcript": "ENST00000488079.1",
"protein_id": "ENSP00000418814.1",
"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": 1630,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO24",
"gene_hgnc_id": 13595,
"hgvs_c": "n.*882C>G",
"hgvs_p": null,
"transcript": "ENST00000488079.1",
"protein_id": "ENSP00000418814.1",
"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": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO24",
"gene_hgnc_id": 13595,
"hgvs_c": "c.1721C>G",
"hgvs_p": "p.Thr574Arg",
"transcript": "NM_012172.5",
"protein_id": "NP_036304.2",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 618,
"cds_start": 1721,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO24",
"gene_hgnc_id": 13595,
"hgvs_c": "c.1721C>G",
"hgvs_p": "p.Thr574Arg",
"transcript": "ENST00000427939.2",
"protein_id": "ENSP00000416558.2",
"transcript_support_level": 2,
"aa_start": 574,
"aa_end": null,
"aa_length": 618,
"cds_start": 1721,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1733,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO24",
"gene_hgnc_id": 13595,
"hgvs_c": "c.1571C>G",
"hgvs_p": "p.Thr524Arg",
"transcript": "NM_001163499.2",
"protein_id": "NP_001156971.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 568,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 1953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO24",
"gene_hgnc_id": 13595,
"hgvs_c": "c.1571C>G",
"hgvs_p": "p.Thr524Arg",
"transcript": "ENST00000468962.5",
"protein_id": "ENSP00000420239.1",
"transcript_support_level": 2,
"aa_start": 524,
"aa_end": null,
"aa_length": 568,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 1901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO24",
"gene_hgnc_id": 13595,
"hgvs_c": "c.1622C>G",
"hgvs_p": "p.Thr541Arg",
"transcript": "XM_011516022.1",
"protein_id": "XP_011514324.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 585,
"cds_start": 1622,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO24",
"gene_hgnc_id": 13595,
"hgvs_c": "c.1550C>G",
"hgvs_p": "p.Thr517Arg",
"transcript": "XM_005250259.5",
"protein_id": "XP_005250316.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 561,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO24",
"gene_hgnc_id": 13595,
"hgvs_c": "c.1436C>G",
"hgvs_p": "p.Thr479Arg",
"transcript": "XM_047420182.1",
"protein_id": "XP_047276138.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 523,
"cds_start": 1436,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO24",
"gene_hgnc_id": 13595,
"hgvs_c": "c.1103C>G",
"hgvs_p": "p.Thr368Arg",
"transcript": "XM_047420183.1",
"protein_id": "XP_047276139.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 412,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 1953,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCOLCE-AS1",
"gene_hgnc_id": 40430,
"hgvs_c": "n.1182G>C",
"hgvs_p": null,
"transcript": "ENST00000442166.2",
"protein_id": null,
"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": 2537,
"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": "PCOLCE-AS1",
"gene_hgnc_id": 40430,
"hgvs_c": "n.328G>C",
"hgvs_p": null,
"transcript": "ENST00000653812.1",
"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": 754,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCOLCE-AS1",
"gene_hgnc_id": 40430,
"hgvs_c": "n.427G>C",
"hgvs_p": null,
"transcript": "ENST00000739654.1",
"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": 1254,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCOLCE-AS1",
"gene_hgnc_id": 40430,
"hgvs_c": "n.1182G>C",
"hgvs_p": null,
"transcript": "NR_038910.1",
"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": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCOLCE-AS1",
"gene_hgnc_id": 40430,
"hgvs_c": "n.93+4927G>C",
"hgvs_p": null,
"transcript": "ENST00000739653.1",
"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": 1144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FBXO24",
"gene_hgnc_id": 13595,
"dbsnp": "rs11768465",
"frequency_reference_population": 6.8406564e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84066e-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": 0.11445125937461853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.077,
"revel_prediction": "Benign",
"alphamissense_score": 0.1065,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.143,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "ENST00000241071.11",
"gene_symbol": "FBXO24",
"hgnc_id": 13595,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1607C>G",
"hgvs_p": "p.Thr536Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000442166.2",
"gene_symbol": "PCOLCE-AS1",
"hgnc_id": 40430,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1182G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}