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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: 19-49211240-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49211240&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49211240,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000252826.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.3611C>T",
"hgvs_p": "p.Pro1204Leu",
"transcript": "NM_017636.4",
"protein_id": "NP_060106.2",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3611,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3686,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": "ENST00000252826.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.3611C>T",
"hgvs_p": "p.Pro1204Leu",
"transcript": "ENST00000252826.10",
"protein_id": "ENSP00000252826.4",
"transcript_support_level": 1,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3611,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3686,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": "NM_017636.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.3176C>T",
"hgvs_p": "p.Pro1059Leu",
"transcript": "ENST00000427978.6",
"protein_id": "ENSP00000407492.1",
"transcript_support_level": 1,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3176,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 3228,
"cdna_end": null,
"cdna_length": 3444,
"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": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*3021C>T",
"hgvs_p": null,
"transcript": "ENST00000595519.5",
"protein_id": "ENSP00000469893.1",
"transcript_support_level": 1,
"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": 3702,
"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": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*2724C>T",
"hgvs_p": null,
"transcript": "ENST00000598502.5",
"protein_id": "ENSP00000470229.1",
"transcript_support_level": 1,
"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": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*3021C>T",
"hgvs_p": null,
"transcript": "ENST00000595519.5",
"protein_id": "ENSP00000469893.1",
"transcript_support_level": 1,
"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": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*2724C>T",
"hgvs_p": null,
"transcript": "ENST00000598502.5",
"protein_id": "ENSP00000470229.1",
"transcript_support_level": 1,
"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": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.3266C>T",
"hgvs_p": "p.Pro1089Leu",
"transcript": "NM_001321281.2",
"protein_id": "NP_001308210.1",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3266,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 3341,
"cdna_end": null,
"cdna_length": 3713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.3176C>T",
"hgvs_p": "p.Pro1059Leu",
"transcript": "NM_001195227.2",
"protein_id": "NP_001182156.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3176,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 3251,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.3089C>T",
"hgvs_p": "p.Pro1030Leu",
"transcript": "NM_001321283.2",
"protein_id": "NP_001308212.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1040,
"cds_start": 3089,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 3330,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2549C>T",
"hgvs_p": "p.Pro850Leu",
"transcript": "NM_001321285.2",
"protein_id": "NP_001308214.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 860,
"cds_start": 2549,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2953,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2003C>T",
"hgvs_p": "p.Pro668Leu",
"transcript": "NM_001321282.2",
"protein_id": "NP_001308211.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 678,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 3450,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.4082C>T",
"hgvs_p": "p.Pro1361Leu",
"transcript": "XM_047438992.1",
"protein_id": "XP_047294948.1",
"transcript_support_level": null,
"aa_start": 1361,
"aa_end": null,
"aa_length": 1371,
"cds_start": 4082,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 5039,
"cdna_end": null,
"cdna_length": 5411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2324C>T",
"hgvs_p": "p.Pro775Leu",
"transcript": "XM_047438993.1",
"protein_id": "XP_047294949.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 785,
"cds_start": 2324,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2444,
"cdna_end": null,
"cdna_length": 2816,
"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": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.2575C>T",
"hgvs_p": null,
"transcript": "ENST00000595071.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2947,
"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": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.3708C>T",
"hgvs_p": null,
"transcript": "ENST00000596338.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3993,
"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": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*2566C>T",
"hgvs_p": null,
"transcript": "ENST00000598697.5",
"protein_id": "ENSP00000468989.1",
"transcript_support_level": 2,
"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": 3349,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.392C>T",
"hgvs_p": null,
"transcript": "ENST00000599459.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.*31C>T",
"hgvs_p": null,
"transcript": "ENST00000597316.1",
"protein_id": "ENSP00000471236.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 50,
"cds_start": -4,
"cds_end": null,
"cds_length": 153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*2566C>T",
"hgvs_p": null,
"transcript": "ENST00000598697.5",
"protein_id": "ENSP00000468989.1",
"transcript_support_level": 2,
"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": 3349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"dbsnp": "rs150391806",
"frequency_reference_population": 0.0031538617,
"hom_count_reference_population": 11,
"allele_count_reference_population": 5013,
"gnomad_exomes_af": 0.00315952,
"gnomad_genomes_af": 0.00310041,
"gnomad_exomes_ac": 4541,
"gnomad_genomes_ac": 472,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005270242691040039,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.0792,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.03,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000252826.10",
"gene_symbol": "TRPM4",
"hgnc_id": 17993,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3611C>T",
"hgvs_p": "p.Pro1204Leu"
}
],
"clinvar_disease": "Cardiovascular phenotype,Conduction disorder of the heart,Family history of sudden cardiac death,Progressive familial heart block type IB,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:4 B:5",
"phenotype_combined": "not specified|Progressive familial heart block type IB|Cardiovascular phenotype|Conduction disorder of the heart|Family history of sudden cardiac death|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}