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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: 5-1330296-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=1330296&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 1330296,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_030782.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1064T>C",
"hgvs_p": "p.Val355Ala",
"transcript": "NM_030782.5",
"protein_id": "NP_110409.2",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 538,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320895.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030782.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1064T>C",
"hgvs_p": "p.Val355Ala",
"transcript": "ENST00000320895.10",
"protein_id": "ENSP00000313854.5",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 538,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030782.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320895.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.573+1507T>C",
"hgvs_p": null,
"transcript": "ENST00000507807.3",
"protein_id": "ENSP00000423321.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": null,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507807.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1064T>C",
"hgvs_p": "p.Val355Ala",
"transcript": "ENST00000966757.1",
"protein_id": "ENSP00000636816.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 606,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966757.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1061T>C",
"hgvs_p": "p.Val354Ala",
"transcript": "ENST00000879373.1",
"protein_id": "ENSP00000549432.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 537,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879373.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1064T>C",
"hgvs_p": "p.Val355Ala",
"transcript": "ENST00000924966.1",
"protein_id": "ENSP00000595025.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 537,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924966.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1064T>C",
"hgvs_p": "p.Val355Ala",
"transcript": "ENST00000966760.1",
"protein_id": "ENSP00000636819.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 536,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966760.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1052T>C",
"hgvs_p": "p.Val351Ala",
"transcript": "ENST00000924967.1",
"protein_id": "ENSP00000595026.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 534,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924967.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1064T>C",
"hgvs_p": "p.Val355Ala",
"transcript": "ENST00000966756.1",
"protein_id": "ENSP00000636815.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 523,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966756.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1061T>C",
"hgvs_p": "p.Val354Ala",
"transcript": "ENST00000924969.1",
"protein_id": "ENSP00000595028.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 522,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924969.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1064T>C",
"hgvs_p": "p.Val355Ala",
"transcript": "ENST00000924968.1",
"protein_id": "ENSP00000595027.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 521,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924968.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1064T>C",
"hgvs_p": "p.Val355Ala",
"transcript": "ENST00000966759.1",
"protein_id": "ENSP00000636818.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 516,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966759.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1061T>C",
"hgvs_p": "p.Val354Ala",
"transcript": "XM_011514144.3",
"protein_id": "XP_011512446.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 537,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514144.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Val177Ala",
"transcript": "XM_024446222.2",
"protein_id": "XP_024301990.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 360,
"cds_start": 530,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446222.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.891+3993T>C",
"hgvs_p": null,
"transcript": "ENST00000966758.1",
"protein_id": "ENSP00000636817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 475,
"cds_start": null,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966758.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.888+3993T>C",
"hgvs_p": null,
"transcript": "ENST00000924970.1",
"protein_id": "ENSP00000595029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": null,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924970.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.573+1507T>C",
"hgvs_p": null,
"transcript": "ENST00000630539.1",
"protein_id": "ENSP00000485923.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": null,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630539.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.1549T>C",
"hgvs_p": null,
"transcript": "ENST00000503042.5",
"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": "ENST00000503042.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.333T>C",
"hgvs_p": null,
"transcript": "ENST00000503151.5",
"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": "ENST00000503151.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.415T>C",
"hgvs_p": null,
"transcript": "ENST00000508765.5",
"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": "ENST00000508765.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.397T>C",
"hgvs_p": null,
"transcript": "ENST00000513250.1",
"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": "pseudogene",
"feature": "ENST00000513250.1"
}
],
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"dbsnp": "rs557678777",
"frequency_reference_population": 0.000053950476,
"hom_count_reference_population": 0,
"allele_count_reference_population": 87,
"gnomad_exomes_af": 0.0000561513,
"gnomad_genomes_af": 0.0000328407,
"gnomad_exomes_ac": 82,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2806124985218048,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.263,
"revel_prediction": "Benign",
"alphamissense_score": 0.246,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.035,
"phylop100way_prediction": "Uncertain_significance",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_030782.5",
"gene_symbol": "CLPTM1L",
"hgnc_id": 24308,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1064T>C",
"hgvs_p": "p.Val355Ala"
}
],
"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
}