← Back to variant description
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: 21-46444720-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46444720&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 46444720,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006031.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "c.9866T>C",
"hgvs_p": "p.Leu3289Ser",
"transcript": "NM_006031.6",
"protein_id": "NP_006022.3",
"transcript_support_level": null,
"aa_start": 3289,
"aa_end": null,
"aa_length": 3336,
"cds_start": 9866,
"cds_end": null,
"cds_length": 10011,
"cdna_start": 9939,
"cdna_end": null,
"cdna_length": 10526,
"mane_select": "ENST00000359568.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006031.6"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "c.9866T>C",
"hgvs_p": "p.Leu3289Ser",
"transcript": "ENST00000359568.10",
"protein_id": "ENSP00000352572.5",
"transcript_support_level": 1,
"aa_start": 3289,
"aa_end": null,
"aa_length": 3336,
"cds_start": 9866,
"cds_end": null,
"cds_length": 10011,
"cdna_start": 9939,
"cdna_end": null,
"cdna_length": 10526,
"mane_select": "NM_006031.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359568.10"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "c.9275T>C",
"hgvs_p": "p.Leu3092Ser",
"transcript": "ENST00000480896.5",
"protein_id": "ENSP00000511989.1",
"transcript_support_level": 1,
"aa_start": 3092,
"aa_end": null,
"aa_length": 3139,
"cds_start": 9275,
"cds_end": null,
"cds_length": 9420,
"cdna_start": 9898,
"cdna_end": null,
"cdna_length": 10485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480896.5"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "c.9899T>C",
"hgvs_p": "p.Leu3300Ser",
"transcript": "ENST00000695558.1",
"protein_id": "ENSP00000512015.1",
"transcript_support_level": null,
"aa_start": 3300,
"aa_end": null,
"aa_length": 3347,
"cds_start": 9899,
"cds_end": null,
"cds_length": 10044,
"cdna_start": 9972,
"cdna_end": null,
"cdna_length": 10559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695558.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "c.9275T>C",
"hgvs_p": "p.Leu3092Ser",
"transcript": "NM_001315529.2",
"protein_id": "NP_001302458.1",
"transcript_support_level": null,
"aa_start": 3092,
"aa_end": null,
"aa_length": 3139,
"cds_start": 9275,
"cds_end": null,
"cds_length": 9420,
"cdna_start": 10119,
"cdna_end": null,
"cdna_length": 10706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001315529.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "c.3899T>C",
"hgvs_p": "p.Leu1300Ser",
"transcript": "ENST00000695528.1",
"protein_id": "ENSP00000511990.1",
"transcript_support_level": null,
"aa_start": 1300,
"aa_end": null,
"aa_length": 1347,
"cds_start": 3899,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 3899,
"cdna_end": null,
"cdna_length": 4468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695528.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "c.2282-564T>C",
"hgvs_p": null,
"transcript": "ENST00000418394.2",
"protein_id": "ENSP00000404708.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 774,
"cds_start": null,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418394.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "c.2205-564T>C",
"hgvs_p": null,
"transcript": "ENST00000695530.1",
"protein_id": "ENSP00000511991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 746,
"cds_start": null,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695530.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "n.6192T>C",
"hgvs_p": null,
"transcript": "ENST00000695527.1",
"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": 6761,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000695527.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "n.4407T>C",
"hgvs_p": null,
"transcript": "ENST00000695529.1",
"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": 4976,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000695529.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "n.3468T>C",
"hgvs_p": null,
"transcript": "ENST00000695531.1",
"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": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000695531.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "n.2536T>C",
"hgvs_p": null,
"transcript": "ENST00000695533.1",
"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": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000695533.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "n.3005T>C",
"hgvs_p": null,
"transcript": "ENST00000695534.1",
"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": 3574,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000695534.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "n.1173T>C",
"hgvs_p": null,
"transcript": "ENST00000695536.1",
"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": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000695536.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "n.790T>C",
"hgvs_p": null,
"transcript": "ENST00000695537.1",
"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": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000695537.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "n.*9109T>C",
"hgvs_p": null,
"transcript": "ENST00000703224.1",
"protein_id": "ENSP00000515242.1",
"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": 10699,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703224.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "n.2536T>C",
"hgvs_p": null,
"transcript": "ENST00000703226.1",
"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": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000703226.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "n.*9109T>C",
"hgvs_p": null,
"transcript": "ENST00000703224.1",
"protein_id": "ENSP00000515242.1",
"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": 10699,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703224.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "n.3303-564T>C",
"hgvs_p": null,
"transcript": "ENST00000695532.1",
"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": 3771,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000695532.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "n.1103-564T>C",
"hgvs_p": null,
"transcript": "ENST00000695535.1",
"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": 1507,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000695535.1"
}
],
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"dbsnp": "rs199737174",
"frequency_reference_population": 0.00013018429,
"hom_count_reference_population": 1,
"allele_count_reference_population": 210,
"gnomad_exomes_af": 0.000132061,
"gnomad_genomes_af": 0.000112099,
"gnomad_exomes_ac": 193,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.049038201570510864,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.09,
"revel_prediction": "Benign",
"alphamissense_score": 0.0976,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.636,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_006031.6",
"gene_symbol": "PCNT",
"hgnc_id": 16068,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.9866T>C",
"hgvs_p": "p.Leu3289Ser"
}
],
"clinvar_disease": "Microcephalic osteodysplastic primordial dwarfism type II,PCNT-related disorder,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Microcephalic osteodysplastic primordial dwarfism type II|PCNT-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}