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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: 1-46562696-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46562696&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MKNK1",
"hgnc_id": 7110,
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Gly294Arg",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_003684.7",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MKNK1-AS1",
"hgnc_id": 44129,
"hgvs_c": "n.515-816C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000602433.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 29,
"alphamissense_prediction": null,
"alphamissense_score": 0.4532,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7852524518966675,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 412,
"aa_ref": "G",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1239,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001135553.4",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371945.10",
"protein_coding": true,
"protein_id": "NP_001129025.2",
"strand": false,
"transcript": "NM_001135553.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 412,
"aa_ref": "G",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1239,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000371945.10",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001135553.4",
"protein_coding": true,
"protein_id": "ENSP00000361013.5",
"strand": false,
"transcript": "ENST00000371945.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2719,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 1362,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000371946.9",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Gly294Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361014.5",
"strand": false,
"transcript": "ENST00000371946.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000342571.7",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "n.783G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000342571.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1121,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000531355.6",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "n.*524G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434493.2",
"strand": false,
"transcript": "ENST00000531355.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1121,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000531355.6",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "n.*524G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434493.2",
"strand": false,
"transcript": "ENST00000531355.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 465,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2809,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 1398,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000649800.1",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498083.1",
"strand": false,
"transcript": "ENST00000649800.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1362,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_003684.7",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Gly294Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003675.3",
"strand": false,
"transcript": "NM_003684.7",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2775,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1362,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000898407.1",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Gly294Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568466.1",
"strand": false,
"transcript": "ENST00000898407.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2814,
"cdna_start": 1164,
"cds_end": null,
"cds_length": 1362,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000898420.1",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Gly294Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568479.1",
"strand": false,
"transcript": "ENST00000898420.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2870,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 1362,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967057.1",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Gly294Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637116.1",
"strand": false,
"transcript": "ENST00000967057.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "G",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2686,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1275,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000650508.1",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "c.793G>A",
"hgvs_p": "p.Gly265Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498143.1",
"strand": false,
"transcript": "ENST00000650508.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 422,
"aa_ref": "G",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3814,
"cdna_start": 2186,
"cds_end": null,
"cds_length": 1269,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000898424.1",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Gly263Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568483.1",
"strand": false,
"transcript": "ENST00000898424.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 422,
"aa_ref": "G",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2627,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1269,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000940355.1",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Gly263Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610414.1",
"strand": false,
"transcript": "ENST00000940355.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2720,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 1257,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001377337.1",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Gly259Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364266.1",
"strand": false,
"transcript": "NM_001377337.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2762,
"cdna_start": 1112,
"cds_end": null,
"cds_length": 1257,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001377338.1",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Gly259Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364267.1",
"strand": false,
"transcript": "NM_001377338.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 415,
"aa_ref": "G",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 959,
"cds_end": null,
"cds_length": 1248,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000967062.1",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Gly256Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637121.1",
"strand": false,
"transcript": "ENST00000967062.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 412,
"aa_ref": "G",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2619,
"cdna_start": 969,
"cds_end": null,
"cds_length": 1239,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001377373.1",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364302.1",
"strand": false,
"transcript": "NM_001377373.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 412,
"aa_ref": "G",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2741,
"cdna_start": 1091,
"cds_end": null,
"cds_length": 1239,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000898408.1",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568467.1",
"strand": false,
"transcript": "ENST00000898408.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 412,
"aa_ref": "G",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3248,
"cdna_start": 1598,
"cds_end": null,
"cds_length": 1239,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000898409.1",
"gene_hgnc_id": 7110,
"gene_symbol": "MKNK1",
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568468.1",
"strand": false,
"transcript": "ENST00000898409.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 412,
"aa_ref": "G",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2760,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1239,
"cds_start": 757,
"consequences": [
"missense_variant"
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}