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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: 7-107749020-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=107749020&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 107749020,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024814.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Pro52Ser",
"transcript": "NM_024814.4",
"protein_id": "NP_079090.2",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 491,
"cds_start": 154,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000440859.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024814.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Pro52Ser",
"transcript": "ENST00000440859.8",
"protein_id": "ENSP00000401277.2",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 491,
"cds_start": 154,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024814.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440859.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Pro52Ser",
"transcript": "ENST00000222597.7",
"protein_id": "ENSP00000222597.2",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 490,
"cds_start": 154,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222597.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "ENST00000698938.1",
"protein_id": "ENSP00000514046.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 503,
"cds_start": 190,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698938.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Pro52Ser",
"transcript": "NM_001284291.2",
"protein_id": "NP_001271220.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 490,
"cds_start": 154,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284291.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "c.4C>T",
"hgvs_p": "p.Pro2Ser",
"transcript": "ENST00000420796.1",
"protein_id": "ENSP00000410615.1",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 321,
"cds_start": 4,
"cds_end": null,
"cds_length": 968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420796.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Pro52Ser",
"transcript": "ENST00000415884.6",
"protein_id": "ENSP00000401175.2",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 123,
"cds_start": 154,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415884.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "c.274C>T",
"hgvs_p": "p.Pro92Ser",
"transcript": "XM_017012643.2",
"protein_id": "XP_016868132.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 531,
"cds_start": 274,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012643.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "c.274C>T",
"hgvs_p": "p.Pro92Ser",
"transcript": "XM_047420855.1",
"protein_id": "XP_047276811.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 530,
"cds_start": 274,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420855.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "c.4C>T",
"hgvs_p": "p.Pro2Ser",
"transcript": "XM_024446936.2",
"protein_id": "XP_024302704.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 441,
"cds_start": 4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446936.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "c.4C>T",
"hgvs_p": "p.Pro2Ser",
"transcript": "XM_024446937.2",
"protein_id": "XP_024302705.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 441,
"cds_start": 4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446937.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "c.4C>T",
"hgvs_p": "p.Pro2Ser",
"transcript": "XM_024446938.2",
"protein_id": "XP_024302706.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 441,
"cds_start": 4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446938.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "c.-280C>T",
"hgvs_p": null,
"transcript": "XM_011516580.4",
"protein_id": "XP_011514882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516580.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "n.154C>T",
"hgvs_p": null,
"transcript": "ENST00000432748.5",
"protein_id": "ENSP00000401374.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000432748.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "n.369C>T",
"hgvs_p": null,
"transcript": "ENST00000479443.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479443.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "n.173C>T",
"hgvs_p": null,
"transcript": "ENST00000487517.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000487517.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "n.173C>T",
"hgvs_p": null,
"transcript": "ENST00000493361.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000493361.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"hgvs_c": "n.176C>T",
"hgvs_p": null,
"transcript": "NR_024199.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_024199.3"
}
],
"gene_symbol": "CBLL1",
"gene_hgnc_id": 21225,
"dbsnp": "rs756977401",
"frequency_reference_population": 0.00005390555,
"hom_count_reference_population": 0,
"allele_count_reference_population": 87,
"gnomad_exomes_af": 0.0000485724,
"gnomad_genomes_af": 0.000105125,
"gnomad_exomes_ac": 71,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1119806170463562,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.1028,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.495,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_024814.4",
"gene_symbol": "CBLL1",
"hgnc_id": 21225,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Pro52Ser"
}
],
"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
}