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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: 14-24440193-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24440193&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SDR39U1",
"hgnc_id": 20275,
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Ala281Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001387322.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "KHNYN",
"hgnc_id": 20166,
"hgvs_c": "c.*2908C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001290256.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.3075,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6692608594894409,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 293,
"aa_ref": "A",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1206,
"cdna_start": 779,
"cds_end": null,
"cds_length": 882,
"cds_start": 772,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_020195.3",
"gene_hgnc_id": 20275,
"gene_symbol": "SDR39U1",
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Ala258Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000399395.8",
"protein_coding": true,
"protein_id": "NP_064580.2",
"strand": false,
"transcript": "NM_020195.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 293,
"aa_ref": "A",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1206,
"cdna_start": 779,
"cds_end": null,
"cds_length": 882,
"cds_start": 772,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000399395.8",
"gene_hgnc_id": 20275,
"gene_symbol": "SDR39U1",
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Ala258Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020195.3",
"protein_coding": true,
"protein_id": "ENSP00000382327.3",
"strand": false,
"transcript": "ENST00000399395.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 185,
"aa_ref": "A",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1364,
"cdna_start": 956,
"cds_end": null,
"cds_length": 558,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000554698.5",
"gene_hgnc_id": 20275,
"gene_symbol": "SDR39U1",
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Ala150Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452438.1",
"strand": false,
"transcript": "ENST00000554698.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 678,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6778,
"cdna_start": null,
"cds_end": null,
"cds_length": 2037,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_015299.3",
"gene_hgnc_id": 20166,
"gene_symbol": "KHNYN",
"hgvs_c": "c.*2908C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000553935.6",
"protein_coding": true,
"protein_id": "NP_056114.1",
"strand": true,
"transcript": "NM_015299.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 678,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6778,
"cdna_start": null,
"cds_end": null,
"cds_length": 2037,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000553935.6",
"gene_hgnc_id": 20166,
"gene_symbol": "KHNYN",
"hgvs_c": "c.*2908C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015299.3",
"protein_coding": true,
"protein_id": "ENSP00000450799.1",
"strand": true,
"transcript": "ENST00000553935.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 678,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6725,
"cdna_start": null,
"cds_end": null,
"cds_length": 2037,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000251343.9",
"gene_hgnc_id": 20166,
"gene_symbol": "KHNYN",
"hgvs_c": "c.*2908C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000251343.5",
"strand": true,
"transcript": "ENST00000251343.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1507,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000544691.6",
"gene_hgnc_id": 20275,
"gene_symbol": "SDR39U1",
"hgvs_c": "n.1080G>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": "ENST00000544691.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 316,
"aa_ref": "A",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1275,
"cdna_start": 848,
"cds_end": null,
"cds_length": 951,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001387322.1",
"gene_hgnc_id": 20275,
"gene_symbol": "SDR39U1",
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Ala281Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374251.1",
"strand": false,
"transcript": "NM_001387322.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 304,
"aa_ref": "A",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1239,
"cdna_start": 812,
"cds_end": null,
"cds_length": 915,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001387323.1",
"gene_hgnc_id": 20275,
"gene_symbol": "SDR39U1",
"hgvs_c": "c.805G>A",
"hgvs_p": "p.Ala269Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374252.1",
"strand": false,
"transcript": "NM_001387323.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 291,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1200,
"cdna_start": 773,
"cds_end": null,
"cds_length": 876,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001387324.1",
"gene_hgnc_id": 20275,
"gene_symbol": "SDR39U1",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Ala256Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374253.1",
"strand": false,
"transcript": "NM_001387324.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 264,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1119,
"cdna_start": 692,
"cds_end": null,
"cds_length": 795,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001387325.1",
"gene_hgnc_id": 20275,
"gene_symbol": "SDR39U1",
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Ala229Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374254.1",
"strand": false,
"transcript": "NM_001387325.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 251,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1080,
"cdna_start": 653,
"cds_end": null,
"cds_length": 756,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001387326.1",
"gene_hgnc_id": 20275,
"gene_symbol": "SDR39U1",
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374255.1",
"strand": false,
"transcript": "NM_001387326.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 251,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1084,
"cdna_start": 660,
"cds_end": null,
"cds_length": 756,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000859574.1",
"gene_hgnc_id": 20275,
"gene_symbol": "SDR39U1",
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529633.1",
"strand": false,
"transcript": "ENST00000859574.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 211,
"aa_ref": "A",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1087,
"cdna_start": 660,
"cds_end": null,
"cds_length": 636,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001290292.3",
"gene_hgnc_id": 20275,
"gene_symbol": "SDR39U1",
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Ala176Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277221.1",
"strand": false,
"transcript": "NM_001290292.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 211,
"aa_ref": "A",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1084,
"cdna_start": 657,
"cds_end": null,
"cds_length": 636,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001308075.2",
"gene_hgnc_id": 20275,
"gene_symbol": "SDR39U1",
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Ala176Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295004.1",
"strand": false,
"transcript": "NM_001308075.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 211,
"aa_ref": "A",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1041,
"cdna_start": 630,
"cds_end": null,
"cds_length": 636,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000538105.6",
"gene_hgnc_id": 20275,
"gene_symbol": "SDR39U1",
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Ala176Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446077.2",
"strand": false,
"transcript": "ENST00000538105.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 185,
"aa_ref": "A",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1164,
"cdna_start": 737,
"cds_end": null,
"cds_length": 558,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001290293.3",
"gene_hgnc_id": 20275,
"gene_symbol": "SDR39U1",
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Ala150Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277222.1",
"strand": false,
"transcript": "NM_001290293.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 185,
"aa_ref": "A",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1165,
"cdna_start": 738,
"cds_end": null,
"cds_length": 558,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001387327.1",
"gene_hgnc_id": 20275,
"gene_symbol": "SDR39U1",
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Ala150Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374256.1",
"strand": false,
"transcript": "NM_001387327.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 183,
"aa_ref": "A",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 556,
"cdna_start": 540,
"cds_end": null,
"cds_length": 554,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000556249.1",
"gene_hgnc_id": 20275,
"gene_symbol": "SDR39U1",
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Ala180Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450915.1",
"strand": false,
"transcript": "ENST00000556249.1",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 168,
"aa_ref": "A",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 681,
"cdna_start": 626,
"cds_end": null,
"cds_length": 509,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000553343.5",
"gene_hgnc_id": 20275,
"gene_symbol": "SDR39U1",
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Ala152Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452076.1",
"strand": false,
"transcript": "ENST00000553343.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 168,
"aa_ref": "A",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1325,
"cdna_start": 911,
"cds_end": null,
"cds_length": 507,
"cds_start": 397,
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