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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: 20-50125110-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=50125110&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 50125110,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_199129.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"hgvs_c": "c.761C>T",
"hgvs_p": "p.Thr254Met",
"transcript": "NM_199129.4",
"protein_id": "NP_954580.2",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 270,
"cds_start": 761,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371652.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199129.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"hgvs_c": "c.761C>T",
"hgvs_p": "p.Thr254Met",
"transcript": "ENST00000371652.9",
"protein_id": "ENSP00000360715.4",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 270,
"cds_start": 761,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_199129.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371652.9"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Thr251Met",
"transcript": "ENST00000371650.9",
"protein_id": "ENSP00000360713.5",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 267,
"cds_start": 752,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371650.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PEDS1-UBE2V1",
"gene_hgnc_id": 33521,
"hgvs_c": "c.691+2865C>T",
"hgvs_p": null,
"transcript": "ENST00000341698.2",
"protein_id": "ENSP00000344166.2",
"transcript_support_level": 1,
"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": "ENST00000341698.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"hgvs_c": "n.*727C>T",
"hgvs_p": null,
"transcript": "ENST00000453505.6",
"protein_id": "ENSP00000411045.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000453505.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"hgvs_c": "n.*727C>T",
"hgvs_p": null,
"transcript": "ENST00000453505.6",
"protein_id": "ENSP00000411045.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000453505.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"hgvs_c": "c.887C>T",
"hgvs_p": "p.Thr296Met",
"transcript": "ENST00000879859.1",
"protein_id": "ENSP00000549918.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 312,
"cds_start": 887,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879859.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Thr253Met",
"transcript": "ENST00000879860.1",
"protein_id": "ENSP00000549919.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 269,
"cds_start": 758,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879860.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Thr252Met",
"transcript": "ENST00000879855.1",
"protein_id": "ENSP00000549914.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 268,
"cds_start": 755,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879855.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Thr251Met",
"transcript": "NM_001162505.2",
"protein_id": "NP_001155977.2",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 267,
"cds_start": 752,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001162505.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Thr214Met",
"transcript": "ENST00000879861.1",
"protein_id": "ENSP00000549920.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 230,
"cds_start": 641,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879861.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Met",
"transcript": "ENST00000879857.1",
"protein_id": "ENSP00000549916.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 199,
"cds_start": 548,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879857.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Thr179Met",
"transcript": "ENST00000371656.3",
"protein_id": "ENSP00000360719.2",
"transcript_support_level": 2,
"aa_start": 179,
"aa_end": null,
"aa_length": 195,
"cds_start": 536,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371656.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Thr175Met",
"transcript": "ENST00000879856.1",
"protein_id": "ENSP00000549915.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 191,
"cds_start": 524,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879856.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000879858.1",
"protein_id": "ENSP00000549917.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 120,
"cds_start": 311,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879858.1"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PEDS1-UBE2V1",
"gene_hgnc_id": 33521,
"hgvs_c": "c.691+2865C>T",
"hgvs_p": null,
"transcript": "NM_199203.3",
"protein_id": "NP_954673.2",
"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": "NM_199203.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"hgvs_c": "n.*393C>T",
"hgvs_p": null,
"transcript": "ENST00000371658.3",
"protein_id": "ENSP00000360721.3",
"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": "ENST00000371658.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"hgvs_c": "n.951C>T",
"hgvs_p": null,
"transcript": "NR_027889.2",
"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_027889.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"hgvs_c": "n.*393C>T",
"hgvs_p": null,
"transcript": "ENST00000371658.3",
"protein_id": "ENSP00000360721.3",
"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": "ENST00000371658.3"
}
],
"gene_symbol": "PEDS1",
"gene_hgnc_id": 16735,
"dbsnp": "rs201575410",
"frequency_reference_population": 0.00006939152,
"hom_count_reference_population": 0,
"allele_count_reference_population": 112,
"gnomad_exomes_af": 0.0000704592,
"gnomad_genomes_af": 0.0000591358,
"gnomad_exomes_ac": 103,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5040044188499451,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.424,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.269,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.691,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_199129.4",
"gene_symbol": "PEDS1",
"hgnc_id": 16735,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.761C>T",
"hgvs_p": "p.Thr254Met"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_199203.3",
"gene_symbol": "PEDS1-UBE2V1",
"hgnc_id": 33521,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.691+2865C>T",
"hgvs_p": null
}
],
"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
}