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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: 2-191998268-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=191998268&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 191998268,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016192.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEFF2",
"gene_hgnc_id": 11867,
"hgvs_c": "c.739T>C",
"hgvs_p": "p.Tyr247His",
"transcript": "NM_016192.4",
"protein_id": "NP_057276.2",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 374,
"cds_start": 739,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": "ENST00000272771.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016192.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEFF2",
"gene_hgnc_id": 11867,
"hgvs_c": "c.739T>C",
"hgvs_p": "p.Tyr247His",
"transcript": "ENST00000272771.10",
"protein_id": "ENSP00000272771.5",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 374,
"cds_start": 739,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": "NM_016192.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272771.10"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEFF2",
"gene_hgnc_id": 11867,
"hgvs_c": "c.739T>C",
"hgvs_p": "p.Tyr247His",
"transcript": "ENST00000392314.5",
"protein_id": "ENSP00000376128.1",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 346,
"cds_start": 739,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 2842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392314.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEFF2",
"gene_hgnc_id": 11867,
"hgvs_c": "c.739T>C",
"hgvs_p": "p.Tyr247His",
"transcript": "ENST00000877060.1",
"protein_id": "ENSP00000547119.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 388,
"cds_start": 739,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 1796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877060.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEFF2",
"gene_hgnc_id": 11867,
"hgvs_c": "c.712T>C",
"hgvs_p": "p.Tyr238His",
"transcript": "ENST00000877059.1",
"protein_id": "ENSP00000547118.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 365,
"cds_start": 712,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877059.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEFF2",
"gene_hgnc_id": 11867,
"hgvs_c": "c.739T>C",
"hgvs_p": "p.Tyr247His",
"transcript": "NM_001305134.2",
"protein_id": "NP_001292063.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 346,
"cds_start": 739,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305134.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEFF2",
"gene_hgnc_id": 11867,
"hgvs_c": "c.739T>C",
"hgvs_p": "p.Tyr247His",
"transcript": "ENST00000936875.1",
"protein_id": "ENSP00000606934.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 321,
"cds_start": 739,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936875.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEFF2",
"gene_hgnc_id": 11867,
"hgvs_c": "c.712T>C",
"hgvs_p": "p.Tyr238His",
"transcript": "XM_011510890.4",
"protein_id": "XP_011509192.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 365,
"cds_start": 712,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510890.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEFF2",
"gene_hgnc_id": 11867,
"hgvs_c": "c.712T>C",
"hgvs_p": "p.Tyr238His",
"transcript": "XM_017003739.3",
"protein_id": "XP_016859228.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 337,
"cds_start": 712,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003739.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEFF2",
"gene_hgnc_id": 11867,
"hgvs_c": "c.739T>C",
"hgvs_p": "p.Tyr247His",
"transcript": "XM_017003740.3",
"protein_id": "XP_016859229.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 266,
"cds_start": 739,
"cds_end": null,
"cds_length": 801,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 18293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003740.3"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TMEFF2",
"gene_hgnc_id": 11867,
"hgvs_c": "c.685+792T>C",
"hgvs_p": null,
"transcript": "ENST00000936874.1",
"protein_id": "ENSP00000606933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": null,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936874.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEFF2",
"gene_hgnc_id": 11867,
"hgvs_c": "n.200T>C",
"hgvs_p": null,
"transcript": "ENST00000487771.1",
"protein_id": null,
"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": 278,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000487771.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAVIN2-AS1",
"gene_hgnc_id": 40517,
"hgvs_c": "n.242-36426A>G",
"hgvs_p": null,
"transcript": "ENST00000424116.8",
"protein_id": null,
"transcript_support_level": 2,
"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": 870,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000424116.8"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAVIN2-AS1",
"gene_hgnc_id": 40517,
"hgvs_c": "n.500-32314A>G",
"hgvs_p": null,
"transcript": "ENST00000428980.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1207,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000428980.6"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAVIN2-AS1",
"gene_hgnc_id": 40517,
"hgvs_c": "n.179-36426A>G",
"hgvs_p": null,
"transcript": "ENST00000792812.1",
"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": 960,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000792812.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CAVIN2-AS1",
"gene_hgnc_id": 40517,
"hgvs_c": "n.285-36426A>G",
"hgvs_p": null,
"transcript": "NR_187184.1",
"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": 18347,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_187184.1"
}
],
"gene_symbol": "TMEFF2",
"gene_hgnc_id": 11867,
"dbsnp": "rs1487505541",
"frequency_reference_population": 0.000002501914,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000207358,
"gnomad_genomes_af": 0.00000657877,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23352715373039246,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.069,
"revel_prediction": "Benign",
"alphamissense_score": 0.1492,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.662,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016192.4",
"gene_symbol": "TMEFF2",
"hgnc_id": 11867,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.739T>C",
"hgvs_p": "p.Tyr247His"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000424116.8",
"gene_symbol": "CAVIN2-AS1",
"hgnc_id": 40517,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.242-36426A>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
}