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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: 4-65332086-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=65332086&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 65332086,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000613740.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2832G>T",
"hgvs_p": "p.Gly944Gly",
"transcript": "NM_001281766.3",
"protein_id": "NP_001268695.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2832,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 3579,
"cdna_end": null,
"cdna_length": 8345,
"mane_select": "ENST00000613740.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2832G>T",
"hgvs_p": "p.Gly944Gly",
"transcript": "ENST00000613740.5",
"protein_id": "ENSP00000478537.1",
"transcript_support_level": 1,
"aa_start": 944,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2832,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 3579,
"cdna_end": null,
"cdna_length": 8345,
"mane_select": "NM_001281766.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2898G>T",
"hgvs_p": "p.Gly966Gly",
"transcript": "ENST00000622150.4",
"protein_id": "ENSP00000480763.1",
"transcript_support_level": 1,
"aa_start": 966,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2898,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 3651,
"cdna_end": null,
"cdna_length": 8421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2895G>T",
"hgvs_p": "p.Gly965Gly",
"transcript": "ENST00000273854.7",
"protein_id": "ENSP00000273854.3",
"transcript_support_level": 1,
"aa_start": 965,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2895,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 3496,
"cdna_end": null,
"cdna_length": 8266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2829G>T",
"hgvs_p": "p.Gly943Gly",
"transcript": "ENST00000354839.8",
"protein_id": "ENSP00000346899.4",
"transcript_support_level": 1,
"aa_start": 943,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2829,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 3022,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2898G>T",
"hgvs_p": "p.Gly966Gly",
"transcript": "ENST00000511294.1",
"protein_id": "ENSP00000427638.1",
"transcript_support_level": 1,
"aa_start": 966,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2898,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 3651,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2898G>T",
"hgvs_p": "p.Gly966Gly",
"transcript": "NM_001281765.3",
"protein_id": "NP_001268694.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2898,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 3645,
"cdna_end": null,
"cdna_length": 8411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2895G>T",
"hgvs_p": "p.Gly965Gly",
"transcript": "NM_004439.8",
"protein_id": "NP_004430.4",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2895,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 3642,
"cdna_end": null,
"cdna_length": 8408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2829G>T",
"hgvs_p": "p.Gly943Gly",
"transcript": "NM_182472.5",
"protein_id": "NP_872272.2",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2829,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 3576,
"cdna_end": null,
"cdna_length": 8342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2898G>T",
"hgvs_p": "p.Gly966Gly",
"transcript": "NM_001281767.3",
"protein_id": "NP_001268696.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2898,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 3645,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2691G>T",
"hgvs_p": "p.Gly897Gly",
"transcript": "NM_001318761.2",
"protein_id": "NP_001305690.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 969,
"cds_start": 2691,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 2769,
"cdna_end": null,
"cdna_length": 7535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2493G>T",
"hgvs_p": "p.Gly831Gly",
"transcript": "NM_001437319.1",
"protein_id": "NP_001424248.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 903,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 3240,
"cdna_end": null,
"cdna_length": 8006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2406G>T",
"hgvs_p": "p.Gly802Gly",
"transcript": "NM_001437313.1",
"protein_id": "NP_001424242.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 874,
"cds_start": 2406,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 3153,
"cdna_end": null,
"cdna_length": 7919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2406G>T",
"hgvs_p": "p.Gly802Gly",
"transcript": "ENST00000432638.6",
"protein_id": "ENSP00000389208.2",
"transcript_support_level": 5,
"aa_start": 802,
"aa_end": null,
"aa_length": 874,
"cds_start": 2406,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 2724,
"cdna_end": null,
"cdna_length": 3662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2403G>T",
"hgvs_p": "p.Gly801Gly",
"transcript": "NM_001437320.1",
"protein_id": "NP_001424249.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 873,
"cds_start": 2403,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 3150,
"cdna_end": null,
"cdna_length": 7916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2340G>T",
"hgvs_p": "p.Gly780Gly",
"transcript": "NM_001437321.1",
"protein_id": "NP_001424250.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 852,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 7853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2562G>T",
"hgvs_p": "p.Gly854Gly",
"transcript": "XM_011531735.4",
"protein_id": "XP_011530037.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 926,
"cds_start": 2562,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 3309,
"cdna_end": null,
"cdna_length": 8075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2496G>T",
"hgvs_p": "p.Gly832Gly",
"transcript": "XM_017007878.3",
"protein_id": "XP_016863367.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 904,
"cds_start": 2496,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 3243,
"cdna_end": null,
"cdna_length": 8009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.2337G>T",
"hgvs_p": "p.Gly779Gly",
"transcript": "XM_017007881.3",
"protein_id": "XP_016863370.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 817,
"cds_start": 2337,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 3084,
"cdna_end": null,
"cdna_length": 4612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"dbsnp": "rs7349683",
"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": -0.36000001430511475,
"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": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.041,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000613740.5",
"gene_symbol": "EPHA5",
"hgnc_id": 3389,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2832G>T",
"hgvs_p": "p.Gly944Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}