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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: 13-77903179-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=77903179&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 77903179,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000646607.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDNRB",
"gene_hgnc_id": 3180,
"hgvs_c": "c.778G>T",
"hgvs_p": "p.Val260Phe",
"transcript": "NM_001122659.3",
"protein_id": "NP_001116131.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 442,
"cds_start": 778,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 4300,
"mane_select": "ENST00000646607.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDNRB",
"gene_hgnc_id": 3180,
"hgvs_c": "c.778G>T",
"hgvs_p": "p.Val260Phe",
"transcript": "ENST00000646607.2",
"protein_id": "ENSP00000493527.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 442,
"cds_start": 778,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 4300,
"mane_select": "NM_001122659.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDNRB",
"gene_hgnc_id": 3180,
"hgvs_c": "c.1048G>T",
"hgvs_p": "p.Val350Phe",
"transcript": "ENST00000377211.8",
"protein_id": "ENSP00000366416.4",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 532,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDNRB",
"gene_hgnc_id": 3180,
"hgvs_c": "c.778G>T",
"hgvs_p": "p.Val260Phe",
"transcript": "ENST00000626030.1",
"protein_id": "ENSP00000486202.1",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 436,
"cds_start": 778,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDNRB",
"gene_hgnc_id": 3180,
"hgvs_c": "c.1048G>T",
"hgvs_p": "p.Val350Phe",
"transcript": "NM_001201397.2",
"protein_id": "NP_001188326.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 532,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 4379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDNRB",
"gene_hgnc_id": 3180,
"hgvs_c": "c.778G>T",
"hgvs_p": "p.Val260Phe",
"transcript": "NM_000115.5",
"protein_id": "NP_000106.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 442,
"cds_start": 778,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 4274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDNRB",
"gene_hgnc_id": 3180,
"hgvs_c": "c.778G>T",
"hgvs_p": "p.Val260Phe",
"transcript": "ENST00000475537.2",
"protein_id": "ENSP00000487082.2",
"transcript_support_level": 4,
"aa_start": 260,
"aa_end": null,
"aa_length": 442,
"cds_start": 778,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDNRB",
"gene_hgnc_id": 3180,
"hgvs_c": "c.778G>T",
"hgvs_p": "p.Val260Phe",
"transcript": "ENST00000646605.1",
"protein_id": "ENSP00000494278.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 442,
"cds_start": 778,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 4445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDNRB",
"gene_hgnc_id": 3180,
"hgvs_c": "c.778G>T",
"hgvs_p": "p.Val260Phe",
"transcript": "ENST00000646948.1",
"protein_id": "ENSP00000493895.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 442,
"cds_start": 778,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 4282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDNRB",
"gene_hgnc_id": 3180,
"hgvs_c": "c.778G>T",
"hgvs_p": "p.Val260Phe",
"transcript": "NM_003991.4",
"protein_id": "NP_003982.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 436,
"cds_start": 778,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 2524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDNRB",
"gene_hgnc_id": 3180,
"hgvs_c": "c.778G>T",
"hgvs_p": "p.Val260Phe",
"transcript": "ENST00000643890.1",
"protein_id": "ENSP00000495815.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 409,
"cds_start": 778,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDNRB",
"gene_hgnc_id": 3180,
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Val86Phe",
"transcript": "ENST00000645696.1",
"protein_id": "ENSP00000495984.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 162,
"cds_start": 256,
"cds_end": null,
"cds_length": 489,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EDNRB-AS1",
"gene_hgnc_id": 49045,
"hgvs_c": "n.327-4513C>A",
"hgvs_p": null,
"transcript": "ENST00000724134.1",
"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": 1076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EDNRB-AS1",
"gene_hgnc_id": 49045,
"hgvs_c": "n.100-4513C>A",
"hgvs_p": null,
"transcript": "ENST00000724136.1",
"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": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "EDNRB-AS1",
"gene_hgnc_id": 49045,
"hgvs_c": "n.1695-4513C>A",
"hgvs_p": null,
"transcript": "NR_103853.1",
"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": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EDNRB",
"gene_hgnc_id": 3180,
"dbsnp": "rs77132068",
"frequency_reference_population": 0.0015204976,
"hom_count_reference_population": 2,
"allele_count_reference_population": 2452,
"gnomad_exomes_af": 0.00155602,
"gnomad_genomes_af": 0.00117878,
"gnomad_exomes_ac": 2273,
"gnomad_genomes_ac": 179,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.016279011964797974,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
"alphamissense_score": 0.0923,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.08,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000646607.2",
"gene_symbol": "EDNRB",
"hgnc_id": 3180,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown,SD",
"hgvs_c": "c.778G>T",
"hgvs_p": "p.Val260Phe"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NR_103853.1",
"gene_symbol": "EDNRB-AS1",
"hgnc_id": 49045,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1695-4513C>A",
"hgvs_p": null
}
],
"clinvar_disease": " 2, susceptibility to,ABCD syndrome,Hirschsprung disease,Waardenburg syndrome type 4A,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1 O:1",
"phenotype_combined": "ABCD syndrome;Hirschsprung disease, susceptibility to, 2;Waardenburg syndrome type 4A|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}