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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: 20-59301488-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=59301488&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 59301488,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_207034.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "NM_207034.3",
"protein_id": "NP_996917.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 238,
"cds_start": 131,
"cds_end": null,
"cds_length": 717,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": "ENST00000337938.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "ENST00000337938.7",
"protein_id": "ENSP00000337128.2",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 238,
"cds_start": 131,
"cds_end": null,
"cds_length": 717,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": "NM_207034.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "ENST00000395654.3",
"protein_id": "ENSP00000379015.3",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 224,
"cds_start": 131,
"cds_end": null,
"cds_length": 675,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "ENST00000311585.11",
"protein_id": "ENSP00000311854.7",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 219,
"cds_start": 131,
"cds_end": null,
"cds_length": 660,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "ENST00000371025.7",
"protein_id": "ENSP00000360064.3",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 192,
"cds_start": 131,
"cds_end": null,
"cds_length": 579,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "NM_001424362.1",
"protein_id": "NP_001411291.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 251,
"cds_start": 131,
"cds_end": null,
"cds_length": 756,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "ENST00000371028.6",
"protein_id": "ENSP00000360067.2",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 238,
"cds_start": 131,
"cds_end": null,
"cds_length": 717,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "NM_207033.3",
"protein_id": "NP_996916.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 224,
"cds_start": 131,
"cds_end": null,
"cds_length": 675,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "NM_207032.3",
"protein_id": "NP_996915.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 219,
"cds_start": 131,
"cds_end": null,
"cds_length": 660,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "NM_001424361.1",
"protein_id": "NP_001411290.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 212,
"cds_start": 131,
"cds_end": null,
"cds_length": 639,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "NM_001424363.1",
"protein_id": "NP_001411292.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 208,
"cds_start": 131,
"cds_end": null,
"cds_length": 627,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "NM_001302455.2",
"protein_id": "NP_001289384.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 198,
"cds_start": 131,
"cds_end": null,
"cds_length": 597,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "ENST00000644821.1",
"protein_id": "ENSP00000493472.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 198,
"cds_start": 131,
"cds_end": null,
"cds_length": 597,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 2544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "NM_001302456.2",
"protein_id": "NP_001289385.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 192,
"cds_start": 131,
"cds_end": null,
"cds_length": 579,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "XM_011528655.3",
"protein_id": "XP_011526957.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 244,
"cds_start": 131,
"cds_end": null,
"cds_length": 735,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "n.772G>C",
"hgvs_p": null,
"transcript": "ENST00000671744.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "n.333G>C",
"hgvs_p": null,
"transcript": "XR_936513.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"hgvs_c": "c.-35G>C",
"hgvs_p": null,
"transcript": "ENST00000672969.1",
"protein_id": "ENSP00000500655.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": -4,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EDN3",
"gene_hgnc_id": 3178,
"dbsnp": "rs1989018715",
"frequency_reference_population": 0.0000043379164,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410535,
"gnomad_genomes_af": 0.00000657151,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30109015107154846,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.223,
"revel_prediction": "Benign",
"alphamissense_score": 0.1594,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.648,
"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": -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_207034.3",
"gene_symbol": "EDN3",
"hgnc_id": 3178,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD,Unknown",
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}