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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: 11-65345981-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65345981&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65345981,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000528416.6",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "c.827G>T",
"hgvs_p": "p.Cys276Phe",
"transcript": "NM_006268.5",
"protein_id": "NP_006259.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 391,
"cds_start": 827,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": "ENST00000528416.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "c.827G>T",
"hgvs_p": "p.Cys276Phe",
"transcript": "ENST00000528416.6",
"protein_id": "ENSP00000436901.1",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 391,
"cds_start": 827,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": "NM_006268.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "c.1379G>T",
"hgvs_p": "p.Cys460Phe",
"transcript": "ENST00000703424.1",
"protein_id": "ENSP00000515295.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 575,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "c.938G>T",
"hgvs_p": "p.Cys313Phe",
"transcript": "ENST00000703425.1",
"protein_id": "ENSP00000515296.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 428,
"cds_start": 938,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "c.869G>T",
"hgvs_p": "p.Cys290Phe",
"transcript": "NM_001330308.2",
"protein_id": "NP_001317237.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 405,
"cds_start": 869,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "c.869G>T",
"hgvs_p": "p.Cys290Phe",
"transcript": "ENST00000252268.8",
"protein_id": "ENSP00000252268.4",
"transcript_support_level": 5,
"aa_start": 290,
"aa_end": null,
"aa_length": 405,
"cds_start": 869,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "c.767G>T",
"hgvs_p": "p.Cys256Phe",
"transcript": "ENST00000703427.1",
"protein_id": "ENSP00000515298.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 371,
"cds_start": 767,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "c.115G>T",
"hgvs_p": "p.Ala39Ser",
"transcript": "ENST00000531989.1",
"protein_id": "ENSP00000435887.1",
"transcript_support_level": 3,
"aa_start": 39,
"aa_end": null,
"aa_length": 116,
"cds_start": 115,
"cds_end": null,
"cds_length": 351,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 1573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "c.809G>T",
"hgvs_p": "p.Cys270Phe",
"transcript": "XM_017018101.3",
"protein_id": "XP_016873590.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 385,
"cds_start": 809,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 4433,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "n.591G>T",
"hgvs_p": null,
"transcript": "ENST00000524666.5",
"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": 4840,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "n.564G>T",
"hgvs_p": null,
"transcript": "ENST00000530973.1",
"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": 702,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "n.1596G>T",
"hgvs_p": null,
"transcript": "ENST00000532052.1",
"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": 3165,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "n.678G>T",
"hgvs_p": null,
"transcript": "ENST00000532264.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 726,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "n.827G>T",
"hgvs_p": null,
"transcript": "ENST00000703393.1",
"protein_id": "ENSP00000515285.1",
"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": 2485,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "n.1039G>T",
"hgvs_p": null,
"transcript": "ENST00000703394.1",
"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": 3870,
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "n.*724G>T",
"hgvs_p": null,
"transcript": "ENST00000703426.1",
"protein_id": "ENSP00000515297.1",
"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": 2286,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "n.783G>T",
"hgvs_p": null,
"transcript": "XR_007062491.1",
"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": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "c.-110G>T",
"hgvs_p": null,
"transcript": "ENST00000530993.6",
"protein_id": "ENSP00000515294.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": -4,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2294,
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "n.*724G>T",
"hgvs_p": null,
"transcript": "ENST00000703426.1",
"protein_id": "ENSP00000515297.1",
"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": 2286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"hgvs_c": "c.466-2869G>T",
"hgvs_p": null,
"transcript": "ENST00000415073.6",
"protein_id": "ENSP00000399714.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": -4,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DPF2",
"gene_hgnc_id": 9964,
"dbsnp": "rs1555031372",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6772052049636841,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.923,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9999,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.53,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000528416.6",
"gene_symbol": "DPF2",
"hgnc_id": 9964,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.827G>T",
"hgvs_p": "p.Cys276Phe"
}
],
"clinvar_disease": "Coffin-Siris syndrome 1,Coffin-Siris syndrome 7",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Coffin-Siris syndrome 7|Coffin-Siris syndrome 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}