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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: 3-49859458-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49859458&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49859458,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024046.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"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": "CAMKV",
"gene_hgnc_id": 28788,
"hgvs_c": "c.1366G>T",
"hgvs_p": "p.Ala456Ser",
"transcript": "NM_024046.5",
"protein_id": "NP_076951.2",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 501,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000477224.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024046.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "CAMKV",
"gene_hgnc_id": 28788,
"hgvs_c": "c.1366G>T",
"hgvs_p": "p.Ala456Ser",
"transcript": "ENST00000477224.6",
"protein_id": "ENSP00000419195.1",
"transcript_support_level": 1,
"aa_start": 456,
"aa_end": null,
"aa_length": 501,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024046.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477224.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKV",
"gene_hgnc_id": 28788,
"hgvs_c": "c.1282G>T",
"hgvs_p": "p.Ala428Ser",
"transcript": "ENST00000296471.11",
"protein_id": "ENSP00000296471.6",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 473,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296471.11"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKV",
"gene_hgnc_id": 28788,
"hgvs_c": "c.1282G>T",
"hgvs_p": "p.Ala428Ser",
"transcript": "ENST00000620470.4",
"protein_id": "ENSP00000484045.1",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 473,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620470.4"
},
{
"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": "CAMKV",
"gene_hgnc_id": 28788,
"hgvs_c": "n.1687G>T",
"hgvs_p": null,
"transcript": "ENST00000475665.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000475665.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "CAMKV",
"gene_hgnc_id": 28788,
"hgvs_c": "c.1366G>T",
"hgvs_p": "p.Ala456Ser",
"transcript": "ENST00000911457.1",
"protein_id": "ENSP00000581516.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 501,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911457.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKV",
"gene_hgnc_id": 28788,
"hgvs_c": "c.1366G>T",
"hgvs_p": "p.Ala456Ser",
"transcript": "ENST00000951011.1",
"protein_id": "ENSP00000621070.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 501,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951011.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "CAMKV",
"gene_hgnc_id": 28788,
"hgvs_c": "c.1357G>T",
"hgvs_p": "p.Ala453Ser",
"transcript": "ENST00000911456.1",
"protein_id": "ENSP00000581515.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 498,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911456.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "CAMKV",
"gene_hgnc_id": 28788,
"hgvs_c": "c.1345G>T",
"hgvs_p": "p.Ala449Ser",
"transcript": "ENST00000865409.1",
"protein_id": "ENSP00000535468.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 494,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865409.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "CAMKV",
"gene_hgnc_id": 28788,
"hgvs_c": "c.1273G>T",
"hgvs_p": "p.Ala425Ser",
"transcript": "NM_001320147.2",
"protein_id": "NP_001307076.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 470,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320147.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "CAMKV",
"gene_hgnc_id": 28788,
"hgvs_c": "c.1273G>T",
"hgvs_p": "p.Ala425Ser",
"transcript": "ENST00000488336.5",
"protein_id": "ENSP00000418809.1",
"transcript_support_level": 2,
"aa_start": 425,
"aa_end": null,
"aa_length": 470,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488336.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "CAMKV",
"gene_hgnc_id": 28788,
"hgvs_c": "c.1237G>T",
"hgvs_p": "p.Ala413Ser",
"transcript": "ENST00000951010.1",
"protein_id": "ENSP00000621069.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 458,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951010.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "CAMKV",
"gene_hgnc_id": 28788,
"hgvs_c": "c.1161G>T",
"hgvs_p": "p.Arg387Ser",
"transcript": "ENST00000463537.5",
"protein_id": "ENSP00000417614.1",
"transcript_support_level": 5,
"aa_start": 387,
"aa_end": null,
"aa_length": 434,
"cds_start": 1161,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463537.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "CAMKV",
"gene_hgnc_id": 28788,
"hgvs_c": "c.1144G>T",
"hgvs_p": "p.Ala382Ser",
"transcript": "ENST00000466940.5",
"protein_id": "ENSP00000420724.1",
"transcript_support_level": 2,
"aa_start": 382,
"aa_end": null,
"aa_length": 427,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466940.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "CAMKV",
"gene_hgnc_id": 28788,
"hgvs_c": "c.1141G>T",
"hgvs_p": "p.Ala381Ser",
"transcript": "ENST00000467248.5",
"protein_id": "ENSP00000420053.1",
"transcript_support_level": 2,
"aa_start": 381,
"aa_end": null,
"aa_length": 426,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467248.5"
},
{
"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": "CAMKV",
"gene_hgnc_id": 28788,
"hgvs_c": "n.*947G>T",
"hgvs_p": null,
"transcript": "ENST00000487726.5",
"protein_id": "ENSP00000420139.1",
"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": "ENST00000487726.5"
},
{
"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": "CAMKV",
"gene_hgnc_id": 28788,
"hgvs_c": "n.*947G>T",
"hgvs_p": null,
"transcript": "ENST00000487726.5",
"protein_id": "ENSP00000420139.1",
"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": "ENST00000487726.5"
}
],
"gene_symbol": "CAMKV",
"gene_hgnc_id": 28788,
"dbsnp": "rs1259989462",
"frequency_reference_population": 0.0000013683765,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136838,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07839509844779968,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
"alphamissense_score": 0.0832,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.236,
"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": 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": "NM_024046.5",
"gene_symbol": "CAMKV",
"hgnc_id": 28788,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1366G>T",
"hgvs_p": "p.Ala456Ser"
}
],
"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
}