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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: 1-230691510-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=230691510&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 230691510,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_007357.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "c.2061C>T",
"hgvs_p": "p.Asp687Asp",
"transcript": "NM_007357.3",
"protein_id": "NP_031383.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 738,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366669.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007357.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "c.2061C>T",
"hgvs_p": "p.Asp687Asp",
"transcript": "ENST00000366669.9",
"protein_id": "ENSP00000355629.4",
"transcript_support_level": 1,
"aa_start": 687,
"aa_end": null,
"aa_length": 738,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007357.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366669.9"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "c.2058C>T",
"hgvs_p": "p.Asp686Asp",
"transcript": "ENST00000366668.7",
"protein_id": "ENSP00000355628.3",
"transcript_support_level": 1,
"aa_start": 686,
"aa_end": null,
"aa_length": 737,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366668.7"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "c.2058C>T",
"hgvs_p": "p.Asp686Asp",
"transcript": "NM_001145036.2",
"protein_id": "NP_001138508.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 737,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145036.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "c.2058C>T",
"hgvs_p": "p.Asp686Asp",
"transcript": "ENST00000921491.1",
"protein_id": "ENSP00000591550.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 737,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921491.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "c.2061C>T",
"hgvs_p": "p.Asp687Asp",
"transcript": "ENST00000964684.1",
"protein_id": "ENSP00000634743.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 731,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964684.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "c.1995C>T",
"hgvs_p": "p.Asp665Asp",
"transcript": "ENST00000964685.1",
"protein_id": "ENSP00000634744.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 716,
"cds_start": 1995,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964685.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "c.1884C>T",
"hgvs_p": "p.Asp628Asp",
"transcript": "ENST00000534989.1",
"protein_id": "ENSP00000440349.1",
"transcript_support_level": 2,
"aa_start": 628,
"aa_end": null,
"aa_length": 679,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534989.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "c.1881C>T",
"hgvs_p": "p.Asp627Asp",
"transcript": "ENST00000865123.1",
"protein_id": "ENSP00000535182.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 678,
"cds_start": 1881,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865123.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "c.1878C>T",
"hgvs_p": "p.Asp626Asp",
"transcript": "ENST00000865124.1",
"protein_id": "ENSP00000535183.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 677,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865124.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "c.1872C>T",
"hgvs_p": "p.Asp624Asp",
"transcript": "ENST00000964686.1",
"protein_id": "ENSP00000634745.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 675,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964686.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "c.1833C>T",
"hgvs_p": "p.Asp611Asp",
"transcript": "ENST00000964687.1",
"protein_id": "ENSP00000634746.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 662,
"cds_start": 1833,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964687.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "c.1647C>T",
"hgvs_p": "p.Asp549Asp",
"transcript": "ENST00000964688.1",
"protein_id": "ENSP00000634747.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 600,
"cds_start": 1647,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964688.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Asp369Asp",
"transcript": "ENST00000964689.1",
"protein_id": "ENSP00000634748.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 420,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964689.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "c.1722C>T",
"hgvs_p": "p.Asp574Asp",
"transcript": "XM_047449445.1",
"protein_id": "XP_047305401.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 625,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449445.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGT",
"gene_hgnc_id": 333,
"hgvs_c": "c.*2901G>A",
"hgvs_p": null,
"transcript": "ENST00000680783.1",
"protein_id": "ENSP00000506329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680783.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "n.*1919C>T",
"hgvs_p": null,
"transcript": "ENST00000468893.6",
"protein_id": "ENSP00000476305.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000468893.6"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "n.320C>T",
"hgvs_p": null,
"transcript": "ENST00000478710.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000478710.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"hgvs_c": "n.*1919C>T",
"hgvs_p": null,
"transcript": "ENST00000468893.6",
"protein_id": "ENSP00000476305.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000468893.6"
}
],
"gene_symbol": "COG2",
"gene_hgnc_id": 6546,
"dbsnp": "rs374676672",
"frequency_reference_population": 0.00017470971,
"hom_count_reference_population": 0,
"allele_count_reference_population": 282,
"gnomad_exomes_af": 0.000168277,
"gnomad_genomes_af": 0.000236481,
"gnomad_exomes_ac": 246,
"gnomad_genomes_ac": 36,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6299999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.159,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_007357.3",
"gene_symbol": "COG2",
"hgnc_id": 6546,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2061C>T",
"hgvs_p": "p.Asp687Asp"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000680783.1",
"gene_symbol": "AGT",
"hgnc_id": 333,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*2901G>A",
"hgvs_p": null
}
],
"clinvar_disease": " type IIq,Congenital disorder of glycosylation,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Congenital disorder of glycosylation, type IIq|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}