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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: 4-65404419-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=65404419&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 65404419,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001281765.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1748G>C",
"hgvs_p": "p.Gly583Ala",
"transcript": "NM_001281766.3",
"protein_id": "NP_001268695.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 1016,
"cds_start": 1748,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000613740.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281766.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1748G>C",
"hgvs_p": "p.Gly583Ala",
"transcript": "ENST00000613740.5",
"protein_id": "ENSP00000478537.1",
"transcript_support_level": 1,
"aa_start": 583,
"aa_end": null,
"aa_length": 1016,
"cds_start": 1748,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001281766.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613740.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1748G>C",
"hgvs_p": "p.Gly583Ala",
"transcript": "ENST00000622150.4",
"protein_id": "ENSP00000480763.1",
"transcript_support_level": 1,
"aa_start": 583,
"aa_end": null,
"aa_length": 1038,
"cds_start": 1748,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622150.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1745G>C",
"hgvs_p": "p.Gly582Ala",
"transcript": "ENST00000273854.7",
"protein_id": "ENSP00000273854.3",
"transcript_support_level": 1,
"aa_start": 582,
"aa_end": null,
"aa_length": 1037,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273854.7"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1745G>C",
"hgvs_p": "p.Gly582Ala",
"transcript": "ENST00000354839.8",
"protein_id": "ENSP00000346899.4",
"transcript_support_level": 1,
"aa_start": 582,
"aa_end": null,
"aa_length": 1015,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354839.8"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1748G>C",
"hgvs_p": "p.Gly583Ala",
"transcript": "ENST00000511294.1",
"protein_id": "ENSP00000427638.1",
"transcript_support_level": 1,
"aa_start": 583,
"aa_end": null,
"aa_length": 1004,
"cds_start": 1748,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511294.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1748G>C",
"hgvs_p": "p.Gly583Ala",
"transcript": "NM_001281765.3",
"protein_id": "NP_001268694.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 1038,
"cds_start": 1748,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281765.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1745G>C",
"hgvs_p": "p.Gly582Ala",
"transcript": "NM_004439.8",
"protein_id": "NP_004430.4",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 1037,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004439.8"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1745G>C",
"hgvs_p": "p.Gly582Ala",
"transcript": "NM_182472.5",
"protein_id": "NP_872272.2",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 1015,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182472.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1748G>C",
"hgvs_p": "p.Gly583Ala",
"transcript": "NM_001281767.3",
"protein_id": "NP_001268696.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 1004,
"cds_start": 1748,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281767.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1541G>C",
"hgvs_p": "p.Gly514Ala",
"transcript": "NM_001318761.2",
"protein_id": "NP_001305690.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 969,
"cds_start": 1541,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318761.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1412G>C",
"hgvs_p": "p.Gly471Ala",
"transcript": "ENST00000893304.1",
"protein_id": "ENSP00000563363.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 926,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893304.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1409G>C",
"hgvs_p": "p.Gly470Ala",
"transcript": "NM_001437319.1",
"protein_id": "NP_001424248.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 903,
"cds_start": 1409,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437319.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1256G>C",
"hgvs_p": "p.Gly419Ala",
"transcript": "NM_001437313.1",
"protein_id": "NP_001424242.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 874,
"cds_start": 1256,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437313.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1256G>C",
"hgvs_p": "p.Gly419Ala",
"transcript": "ENST00000432638.6",
"protein_id": "ENSP00000389208.2",
"transcript_support_level": 5,
"aa_start": 419,
"aa_end": null,
"aa_length": 874,
"cds_start": 1256,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432638.6"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1253G>C",
"hgvs_p": "p.Gly418Ala",
"transcript": "NM_001437320.1",
"protein_id": "NP_001424249.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 873,
"cds_start": 1253,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437320.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1256G>C",
"hgvs_p": "p.Gly419Ala",
"transcript": "NM_001437321.1",
"protein_id": "NP_001424250.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 852,
"cds_start": 1256,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437321.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1412G>C",
"hgvs_p": "p.Gly471Ala",
"transcript": "XM_011531735.4",
"protein_id": "XP_011530037.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 926,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531735.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1412G>C",
"hgvs_p": "p.Gly471Ala",
"transcript": "XM_017007878.3",
"protein_id": "XP_016863367.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 904,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007878.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"hgvs_c": "c.1253G>C",
"hgvs_p": "p.Gly418Ala",
"transcript": "XM_017007881.3",
"protein_id": "XP_016863370.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 817,
"cds_start": 1253,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007881.3"
}
],
"gene_symbol": "EPHA5",
"gene_hgnc_id": 3389,
"dbsnp": "rs1057520012",
"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": 0.24556440114974976,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.148,
"revel_prediction": "Benign",
"alphamissense_score": 0.0643,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.762,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001281765.3",
"gene_symbol": "EPHA5",
"hgnc_id": 3389,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1748G>C",
"hgvs_p": "p.Gly583Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}