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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: 5-113564033-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=113564033&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": "YTHDC2",
"hgnc_id": 24721,
"hgvs_c": "c.2617C>T",
"hgvs_p": "p.Pro873Ser",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_022828.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9459,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8361725807189941,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1430,
"aa_ref": "P",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6305,
"cdna_start": 2819,
"cds_end": null,
"cds_length": 4293,
"cds_start": 2617,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_022828.5",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.2617C>T",
"hgvs_p": "p.Pro873Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000161863.9",
"protein_coding": true,
"protein_id": "NP_073739.3",
"strand": true,
"transcript": "NM_022828.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1430,
"aa_ref": "P",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6305,
"cdna_start": 2819,
"cds_end": null,
"cds_length": 4293,
"cds_start": 2617,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000161863.9",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.2617C>T",
"hgvs_p": "p.Pro873Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022828.5",
"protein_coding": true,
"protein_id": "ENSP00000161863.4",
"strand": true,
"transcript": "ENST00000161863.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1461,
"aa_ref": "P",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6390,
"cdna_start": 2811,
"cds_end": null,
"cds_length": 4386,
"cds_start": 2617,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000935143.1",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.2617C>T",
"hgvs_p": "p.Pro873Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605202.1",
"strand": true,
"transcript": "ENST00000935143.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1430,
"aa_ref": "P",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6384,
"cdna_start": 2804,
"cds_end": null,
"cds_length": 4293,
"cds_start": 2617,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000873029.1",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.2617C>T",
"hgvs_p": "p.Pro873Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543088.1",
"strand": true,
"transcript": "ENST00000873029.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1429,
"aa_ref": "P",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5138,
"cdna_start": 2805,
"cds_end": null,
"cds_length": 4290,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000948231.1",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.2614C>T",
"hgvs_p": "p.Pro872Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618290.1",
"strand": true,
"transcript": "ENST00000948231.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1408,
"aa_ref": "P",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6326,
"cdna_start": 2815,
"cds_end": null,
"cds_length": 4227,
"cds_start": 2617,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000935141.1",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.2617C>T",
"hgvs_p": "p.Pro873Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605200.1",
"strand": true,
"transcript": "ENST00000935141.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1408,
"aa_ref": "P",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6232,
"cdna_start": 2811,
"cds_end": null,
"cds_length": 4227,
"cds_start": 2617,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000935142.1",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.2617C>T",
"hgvs_p": "p.Pro873Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605201.1",
"strand": true,
"transcript": "ENST00000935142.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "P",
"aa_start": 835,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6131,
"cdna_start": 2695,
"cds_end": null,
"cds_length": 4179,
"cds_start": 2503,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000948229.1",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.2503C>T",
"hgvs_p": "p.Pro835Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618288.1",
"strand": true,
"transcript": "ENST00000948229.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5894,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 3900,
"cds_start": 2224,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000948227.1",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Pro742Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618286.1",
"strand": true,
"transcript": "ENST00000948227.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1268,
"aa_ref": "P",
"aa_start": 711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6108,
"cdna_start": 2622,
"cds_end": null,
"cds_length": 3807,
"cds_start": 2131,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001345975.2",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.2131C>T",
"hgvs_p": "p.Pro711Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332904.1",
"strand": true,
"transcript": "NM_001345975.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "P",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5908,
"cdna_start": 2422,
"cds_end": null,
"cds_length": 3393,
"cds_start": 1717,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001345976.2",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.1717C>T",
"hgvs_p": "p.Pro573Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332905.1",
"strand": true,
"transcript": "NM_001345976.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1439,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5888,
"cdna_start": 2819,
"cds_end": null,
"cds_length": 4320,
"cds_start": 2617,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011543581.2",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.2617C>T",
"hgvs_p": "p.Pro873Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541883.1",
"strand": true,
"transcript": "XM_011543581.2",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6396,
"cdna_start": 2819,
"cds_end": null,
"cds_length": 4293,
"cds_start": 2617,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047417527.1",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.2617C>T",
"hgvs_p": "p.Pro873Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273483.1",
"strand": true,
"transcript": "XM_047417527.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1406,
"aa_ref": "P",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6217,
"cdna_start": 2819,
"cds_end": null,
"cds_length": 4221,
"cds_start": 2617,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011543582.3",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.2617C>T",
"hgvs_p": "p.Pro873Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541884.1",
"strand": true,
"transcript": "XM_011543582.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1277,
"aa_ref": "P",
"aa_start": 711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5300,
"cdna_start": 2231,
"cds_end": null,
"cds_length": 3834,
"cds_start": 2131,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047417528.1",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.2131C>T",
"hgvs_p": "p.Pro711Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273484.1",
"strand": true,
"transcript": "XM_047417528.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "P",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5107,
"cdna_start": 2819,
"cds_end": null,
"cds_length": 3489,
"cds_start": 2617,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011543586.3",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.2617C>T",
"hgvs_p": "p.Pro873Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541888.1",
"strand": true,
"transcript": "XM_011543586.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1139,
"aa_ref": "P",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5103,
"cdna_start": 2034,
"cds_end": null,
"cds_length": 3420,
"cds_start": 1717,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047417529.1",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.1717C>T",
"hgvs_p": "p.Pro573Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273485.1",
"strand": true,
"transcript": "XM_047417529.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6031,
"cdna_start": null,
"cds_end": null,
"cds_length": 3954,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948228.1",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.2442+541C>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618287.1",
"strand": true,
"transcript": "ENST00000948228.1",
"transcript_support_level": null
},
{
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"aa_length": 1317,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4815,
"cdna_start": null,
"cds_end": null,
"cds_length": 3954,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948230.1",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "c.2442+541C>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618289.1",
"strand": true,
"transcript": "ENST00000948230.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4682,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XR_246540.4",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "n.2819C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_246540.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4594,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XR_948288.3",
"gene_hgnc_id": 24721,
"gene_symbol": "YTHDC2",
"hgvs_c": "n.2819C>T",
"hgvs_p": null,
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}