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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: 20-3864538-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3864538&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 3864538,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020746.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAVS",
"gene_hgnc_id": 29233,
"hgvs_c": "c.908T>C",
"hgvs_p": "p.Met303Thr",
"transcript": "NM_020746.5",
"protein_id": "NP_065797.2",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 540,
"cds_start": 908,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000428216.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020746.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAVS",
"gene_hgnc_id": 29233,
"hgvs_c": "c.908T>C",
"hgvs_p": "p.Met303Thr",
"transcript": "ENST00000428216.4",
"protein_id": "ENSP00000401980.2",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 540,
"cds_start": 908,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020746.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428216.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAVS",
"gene_hgnc_id": 29233,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Met162Thr",
"transcript": "ENST00000416600.6",
"protein_id": "ENSP00000413749.2",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 399,
"cds_start": 485,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416600.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAVS",
"gene_hgnc_id": 29233,
"hgvs_c": "c.908T>C",
"hgvs_p": "p.Met303Thr",
"transcript": "ENST00000883971.1",
"protein_id": "ENSP00000554030.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 550,
"cds_start": 908,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883971.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAVS",
"gene_hgnc_id": 29233,
"hgvs_c": "c.908T>C",
"hgvs_p": "p.Met303Thr",
"transcript": "ENST00000883969.1",
"protein_id": "ENSP00000554028.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 540,
"cds_start": 908,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883969.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAVS",
"gene_hgnc_id": 29233,
"hgvs_c": "c.908T>C",
"hgvs_p": "p.Met303Thr",
"transcript": "ENST00000883970.1",
"protein_id": "ENSP00000554029.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 540,
"cds_start": 908,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883970.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAVS",
"gene_hgnc_id": 29233,
"hgvs_c": "c.908T>C",
"hgvs_p": "p.Met303Thr",
"transcript": "ENST00000972011.1",
"protein_id": "ENSP00000642070.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 540,
"cds_start": 908,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972011.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAVS",
"gene_hgnc_id": 29233,
"hgvs_c": "c.560T>C",
"hgvs_p": "p.Met187Thr",
"transcript": "ENST00000883968.1",
"protein_id": "ENSP00000554027.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 424,
"cds_start": 560,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883968.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAVS",
"gene_hgnc_id": 29233,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Met162Thr",
"transcript": "NM_001206491.2",
"protein_id": "NP_001193420.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 399,
"cds_start": 485,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206491.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAVS",
"gene_hgnc_id": 29233,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Met162Thr",
"transcript": "NM_001385663.1",
"protein_id": "NP_001372592.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 399,
"cds_start": 485,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385663.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAVS",
"gene_hgnc_id": 29233,
"hgvs_c": "n.872T>C",
"hgvs_p": null,
"transcript": "NR_037921.2",
"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_037921.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PANK2-AS1",
"gene_hgnc_id": 40732,
"hgvs_c": "n.426-1648A>G",
"hgvs_p": null,
"transcript": "ENST00000725518.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000725518.1"
}
],
"gene_symbol": "MAVS",
"gene_hgnc_id": 29233,
"dbsnp": "rs201030078",
"frequency_reference_population": 0.00011709776,
"hom_count_reference_population": 0,
"allele_count_reference_population": 189,
"gnomad_exomes_af": 0.000123133,
"gnomad_genomes_af": 0.0000591312,
"gnomad_exomes_ac": 180,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07061833143234253,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.2415,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.275,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_020746.5",
"gene_symbol": "MAVS",
"hgnc_id": 29233,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.908T>C",
"hgvs_p": "p.Met303Thr"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000725518.1",
"gene_symbol": "PANK2-AS1",
"hgnc_id": 40732,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.426-1648A>G",
"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
}