← 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: 6-63720598-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=63720598&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 63720598,
"ref": "A",
"alt": "C",
"effect": "stop_lost",
"transcript": "NM_001142800.2",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.9433T>G",
"hgvs_p": "p.Ter3145Gluext*?",
"transcript": "NM_001142800.2",
"protein_id": "NP_001136272.1",
"transcript_support_level": null,
"aa_start": 3145,
"aa_end": null,
"aa_length": 3144,
"cds_start": 9433,
"cds_end": null,
"cds_length": 9435,
"cdna_start": 9972,
"cdna_end": null,
"cdna_length": 10590,
"mane_select": "ENST00000503581.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.9433T>G",
"hgvs_p": "p.Ter3145Gluext*?",
"transcript": "ENST00000503581.6",
"protein_id": "ENSP00000424243.1",
"transcript_support_level": 5,
"aa_start": 3145,
"aa_end": null,
"aa_length": 3144,
"cds_start": 9433,
"cds_end": null,
"cds_length": 9435,
"cdna_start": 9972,
"cdna_end": null,
"cdna_length": 10590,
"mane_select": "NM_001142800.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.9496T>G",
"hgvs_p": "p.Ter3166Gluext*?",
"transcript": "ENST00000370621.7",
"protein_id": "ENSP00000359655.3",
"transcript_support_level": 1,
"aa_start": 3166,
"aa_end": null,
"aa_length": 3165,
"cds_start": 9496,
"cds_end": null,
"cds_length": 9498,
"cdna_start": 10023,
"cdna_end": null,
"cdna_length": 10485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.*6890A>C",
"hgvs_p": null,
"transcript": "NM_001370348.2",
"protein_id": "NP_001357277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2039,
"cds_start": -4,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18797,
"mane_select": "ENST00000262043.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.*6890A>C",
"hgvs_p": null,
"transcript": "ENST00000262043.8",
"protein_id": "ENSP00000262043.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2039,
"cds_start": -4,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18797,
"mane_select": "NM_001370348.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.9496T>G",
"hgvs_p": "p.Ter3166Gluext*?",
"transcript": "NM_001292009.2",
"protein_id": "NP_001278938.1",
"transcript_support_level": null,
"aa_start": 3166,
"aa_end": null,
"aa_length": 3165,
"cds_start": 9496,
"cds_end": null,
"cds_length": 9498,
"cdna_start": 10035,
"cdna_end": null,
"cdna_length": 10653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.*6890A>C",
"hgvs_p": null,
"transcript": "NM_015153.4",
"protein_id": "NP_055968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2039,
"cds_start": -4,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.*6890A>C",
"hgvs_p": null,
"transcript": "NM_001290259.2",
"protein_id": "NP_001277188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1951,
"cds_start": -4,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.*6890A>C",
"hgvs_p": null,
"transcript": "NM_001370349.2",
"protein_id": "NP_001357278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1951,
"cds_start": -4,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.*6890A>C",
"hgvs_p": null,
"transcript": "NM_001370350.2",
"protein_id": "NP_001357279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1308,
"cds_start": -4,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.*6890A>C",
"hgvs_p": null,
"transcript": "XM_011535648.4",
"protein_id": "XP_011533950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2048,
"cds_start": -4,
"cds_end": null,
"cds_length": 6147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 19141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.*6890A>C",
"hgvs_p": null,
"transcript": "XM_047418528.1",
"protein_id": "XP_047274484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1951,
"cds_start": -4,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 19011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.*6890A>C",
"hgvs_p": null,
"transcript": "XM_047418529.1",
"protein_id": "XP_047274485.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1951,
"cds_start": -4,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.*6890A>C",
"hgvs_p": null,
"transcript": "XM_047418530.1",
"protein_id": "XP_047274486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1951,
"cds_start": -4,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18642,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.361+9236A>C",
"hgvs_p": null,
"transcript": "ENST00000505138.1",
"protein_id": "ENSP00000421417.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": -4,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"dbsnp": "rs1348024945",
"frequency_reference_population": 0.0000020396453,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000151666,
"gnomad_genomes_af": 0.00000657229,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"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": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.874,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001142800.2",
"gene_symbol": "EYS",
"hgnc_id": 21555,
"effects": [
"stop_lost"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.9433T>G",
"hgvs_p": "p.Ter3145Gluext*?"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001370348.2",
"gene_symbol": "PHF3",
"hgnc_id": 8921,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*6890A>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}