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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: 1-59907879-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=59907879&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 59907879,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000775.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"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": "CYP2J2",
"gene_hgnc_id": 2634,
"hgvs_c": "c.910A>C",
"hgvs_p": "p.Ser304Arg",
"transcript": "NM_000775.4",
"protein_id": "NP_000766.2",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 502,
"cds_start": 910,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": "ENST00000371204.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000775.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"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": "CYP2J2",
"gene_hgnc_id": 2634,
"hgvs_c": "c.910A>C",
"hgvs_p": "p.Ser304Arg",
"transcript": "ENST00000371204.4",
"protein_id": "ENSP00000360247.3",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 502,
"cds_start": 910,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": "NM_000775.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371204.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "CYP2J2",
"gene_hgnc_id": 2634,
"hgvs_c": "c.901A>C",
"hgvs_p": "p.Ser301Arg",
"transcript": "ENST00000905907.1",
"protein_id": "ENSP00000575966.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 499,
"cds_start": 901,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905907.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "CYP2J2",
"gene_hgnc_id": 2634,
"hgvs_c": "c.910A>C",
"hgvs_p": "p.Ser304Arg",
"transcript": "ENST00000905910.1",
"protein_id": "ENSP00000575969.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 473,
"cds_start": 910,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905910.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2J2",
"gene_hgnc_id": 2634,
"hgvs_c": "c.763A>C",
"hgvs_p": "p.Ser255Arg",
"transcript": "ENST00000905908.1",
"protein_id": "ENSP00000575967.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 453,
"cds_start": 763,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905908.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "CYP2J2",
"gene_hgnc_id": 2634,
"hgvs_c": "c.601A>C",
"hgvs_p": "p.Ser201Arg",
"transcript": "XM_047447498.1",
"protein_id": "XP_047303454.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 399,
"cds_start": 601,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447498.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2J2",
"gene_hgnc_id": 2634,
"hgvs_c": "c.601A>C",
"hgvs_p": "p.Ser201Arg",
"transcript": "XM_047447499.1",
"protein_id": "XP_047303455.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 399,
"cds_start": 601,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 2859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447499.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2J2",
"gene_hgnc_id": 2634,
"hgvs_c": "c.903A>C",
"hgvs_p": "p.Ala301Ala",
"transcript": "ENST00000905909.1",
"protein_id": "ENSP00000575968.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 437,
"cds_start": 903,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 1681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905909.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2J2",
"gene_hgnc_id": 2634,
"hgvs_c": "n.910A>C",
"hgvs_p": null,
"transcript": "ENST00000466095.5",
"protein_id": "ENSP00000498084.1",
"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": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000466095.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2J2",
"gene_hgnc_id": 2634,
"hgvs_c": "n.910A>C",
"hgvs_p": null,
"transcript": "ENST00000468257.2",
"protein_id": "ENSP00000497807.1",
"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": 2006,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000468257.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2J2",
"gene_hgnc_id": 2634,
"hgvs_c": "n.*671A>C",
"hgvs_p": null,
"transcript": "ENST00000469406.6",
"protein_id": "ENSP00000497732.1",
"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": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000469406.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2J2",
"gene_hgnc_id": 2634,
"hgvs_c": "n.1464A>C",
"hgvs_p": null,
"transcript": "ENST00000492633.5",
"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": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492633.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2J2",
"gene_hgnc_id": 2634,
"hgvs_c": "n.937A>C",
"hgvs_p": null,
"transcript": "NR_134981.2",
"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": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134981.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2J2",
"gene_hgnc_id": 2634,
"hgvs_c": "n.937A>C",
"hgvs_p": null,
"transcript": "NR_134982.2",
"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": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134982.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2J2",
"gene_hgnc_id": 2634,
"hgvs_c": "n.*671A>C",
"hgvs_p": null,
"transcript": "ENST00000469406.6",
"protein_id": "ENSP00000497732.1",
"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": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000469406.6"
}
],
"gene_symbol": "CYP2J2",
"gene_hgnc_id": 2634,
"dbsnp": null,
"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": 0.8362232446670532,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.345,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9592,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.419,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000775.4",
"gene_symbol": "CYP2J2",
"hgnc_id": 2634,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.910A>C",
"hgvs_p": "p.Ser304Arg"
}
],
"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
}