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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: 19-44987312-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44987312&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44987312,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001294.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"hgvs_c": "c.927A>C",
"hgvs_p": "p.Pro309Pro",
"transcript": "NM_001294.4",
"protein_id": "NP_001285.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 669,
"cds_start": 927,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337392.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001294.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"hgvs_c": "c.927A>C",
"hgvs_p": "p.Pro309Pro",
"transcript": "ENST00000337392.10",
"protein_id": "ENSP00000336994.4",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 669,
"cds_start": 927,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001294.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337392.10"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"hgvs_c": "n.972A>C",
"hgvs_p": null,
"transcript": "ENST00000588855.5",
"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": "ENST00000588855.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"hgvs_c": "c.927A>C",
"hgvs_p": "p.Pro309Pro",
"transcript": "ENST00000870268.1",
"protein_id": "ENSP00000540327.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 697,
"cds_start": 927,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870268.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"hgvs_c": "c.951A>C",
"hgvs_p": "p.Pro317Pro",
"transcript": "ENST00000870269.1",
"protein_id": "ENSP00000540328.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 677,
"cds_start": 951,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870269.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"hgvs_c": "c.927A>C",
"hgvs_p": "p.Pro309Pro",
"transcript": "ENST00000870270.1",
"protein_id": "ENSP00000540329.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 676,
"cds_start": 927,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870270.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"hgvs_c": "c.927A>C",
"hgvs_p": "p.Pro309Pro",
"transcript": "ENST00000870267.1",
"protein_id": "ENSP00000540326.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 675,
"cds_start": 927,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870267.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"hgvs_c": "c.927A>C",
"hgvs_p": "p.Pro309Pro",
"transcript": "ENST00000920192.1",
"protein_id": "ENSP00000590251.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 667,
"cds_start": 927,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920192.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"hgvs_c": "c.915A>C",
"hgvs_p": "p.Pro305Pro",
"transcript": "ENST00000969524.1",
"protein_id": "ENSP00000639583.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 665,
"cds_start": 915,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969524.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"hgvs_c": "c.885A>C",
"hgvs_p": "p.Pro295Pro",
"transcript": "NM_001282175.2",
"protein_id": "NP_001269104.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 655,
"cds_start": 885,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282175.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"hgvs_c": "c.885A>C",
"hgvs_p": "p.Pro295Pro",
"transcript": "ENST00000541297.6",
"protein_id": "ENSP00000442011.1",
"transcript_support_level": 2,
"aa_start": 295,
"aa_end": null,
"aa_length": 655,
"cds_start": 885,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541297.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"hgvs_c": "c.927A>C",
"hgvs_p": "p.Pro309Pro",
"transcript": "ENST00000870266.1",
"protein_id": "ENSP00000540325.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 637,
"cds_start": 927,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870266.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"hgvs_c": "c.621A>C",
"hgvs_p": "p.Pro207Pro",
"transcript": "NM_001282176.2",
"protein_id": "NP_001269105.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 567,
"cds_start": 621,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282176.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"hgvs_c": "c.621A>C",
"hgvs_p": "p.Pro207Pro",
"transcript": "ENST00000546079.5",
"protein_id": "ENSP00000443192.1",
"transcript_support_level": 2,
"aa_start": 207,
"aa_end": null,
"aa_length": 567,
"cds_start": 621,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546079.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"hgvs_c": "n.409A>C",
"hgvs_p": null,
"transcript": "ENST00000588274.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000588274.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"hgvs_c": "n.671A>C",
"hgvs_p": null,
"transcript": "ENST00000589158.1",
"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": "pseudogene",
"feature": "ENST00000589158.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"hgvs_c": "n.-49A>C",
"hgvs_p": null,
"transcript": "ENST00000589347.1",
"protein_id": "ENSP00000464985.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000589347.1"
}
],
"gene_symbol": "CLPTM1",
"gene_hgnc_id": 2087,
"dbsnp": "rs3786505",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.331,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001294.4",
"gene_symbol": "CLPTM1",
"hgnc_id": 2087,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.927A>C",
"hgvs_p": "p.Pro309Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}