← Back to variant description
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: 1-34987589-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=34987589&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 34987589,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_007167.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.3493A>G",
"hgvs_p": "p.Met1165Val",
"transcript": "NM_007167.4",
"protein_id": "NP_009098.3",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 3698,
"cdna_end": null,
"cdna_length": 5122,
"mane_select": "ENST00000357182.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007167.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.3493A>G",
"hgvs_p": "p.Met1165Val",
"transcript": "ENST00000357182.9",
"protein_id": "ENSP00000349708.4",
"transcript_support_level": 1,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 3698,
"cdna_end": null,
"cdna_length": 5122,
"mane_select": "NM_007167.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357182.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "n.4817A>G",
"hgvs_p": null,
"transcript": "ENST00000493328.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 6241,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000493328.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271741",
"gene_hgnc_id": null,
"hgvs_c": "n.2147-3642A>G",
"hgvs_p": null,
"transcript": "ENST00000487874.1",
"protein_id": "ENSP00000421752.1",
"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": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000487874.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.3565A>G",
"hgvs_p": "p.Met1189Val",
"transcript": "ENST00000859306.1",
"protein_id": "ENSP00000529365.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1349,
"cds_start": 3565,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 3742,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859306.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.3493A>G",
"hgvs_p": "p.Met1165Val",
"transcript": "ENST00000859303.1",
"protein_id": "ENSP00000529362.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 3679,
"cdna_end": null,
"cdna_length": 5124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859303.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.3493A>G",
"hgvs_p": "p.Met1165Val",
"transcript": "ENST00000929017.1",
"protein_id": "ENSP00000599076.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 3758,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929017.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.3493A>G",
"hgvs_p": "p.Met1165Val",
"transcript": "ENST00000929018.1",
"protein_id": "ENSP00000599077.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 3736,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929018.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.3493A>G",
"hgvs_p": "p.Met1165Val",
"transcript": "ENST00000965365.1",
"protein_id": "ENSP00000635424.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 4587,
"cdna_end": null,
"cdna_length": 6008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965365.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.3493A>G",
"hgvs_p": "p.Met1165Val",
"transcript": "ENST00000965366.1",
"protein_id": "ENSP00000635425.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 3583,
"cdna_end": null,
"cdna_length": 4191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965366.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.3493A>G",
"hgvs_p": "p.Met1165Val",
"transcript": "ENST00000965367.1",
"protein_id": "ENSP00000635426.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 3752,
"cdna_end": null,
"cdna_length": 4360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965367.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.3358A>G",
"hgvs_p": "p.Met1120Val",
"transcript": "ENST00000859302.1",
"protein_id": "ENSP00000529361.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3358,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 3545,
"cdna_end": null,
"cdna_length": 4964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859302.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.3214A>G",
"hgvs_p": "p.Met1072Val",
"transcript": "ENST00000929016.1",
"protein_id": "ENSP00000599075.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3214,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 3425,
"cdna_end": null,
"cdna_length": 4033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929016.1"
},
{
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.2147-37A>G",
"hgvs_p": null,
"transcript": "ENST00000859304.1",
"protein_id": "ENSP00000529363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859304.1"
},
{
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.2147-37A>G",
"hgvs_p": null,
"transcript": "ENST00000859305.1",
"protein_id": "ENSP00000529364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859305.1"
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.2147-37A>G",
"hgvs_p": null,
"transcript": "ENST00000929015.1",
"protein_id": "ENSP00000599074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929015.1"
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.1955-37A>G",
"hgvs_p": null,
"transcript": "ENST00000965368.1",
"protein_id": "ENSP00000635427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 800,
"cds_start": null,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965368.1"
}
],
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"dbsnp": "rs924818039",
"frequency_reference_population": 0.000003718827,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000273746,
"gnomad_genomes_af": 0.0000131404,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16779854893684387,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.123,
"revel_prediction": "Benign",
"alphamissense_score": 0.1362,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.351,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_007167.4",
"gene_symbol": "ZMYM6",
"hgnc_id": 13050,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3493A>G",
"hgvs_p": "p.Met1165Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000487874.1",
"gene_symbol": "ENSG00000271741",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2147-3642A>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
}