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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: 10-124998037-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=124998037&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CTBP2",
"hgnc_id": 2495,
"hgvs_c": "c.2112C>T",
"hgvs_p": "p.Ser704Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_022802.3",
"verdict": "Benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000273599",
"hgnc_id": null,
"hgvs_c": "n.1974G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000617058.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_score": -9,
"allele_count_reference_population": 173,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "10",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.38999998569488525,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6989,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1338,
"cds_start": 492,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001329.4",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.492C>T",
"hgvs_p": "p.Ser164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000337195.11",
"protein_coding": true,
"protein_id": "NP_001320.1",
"strand": false,
"transcript": "NM_001329.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6989,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1338,
"cds_start": 492,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000337195.11",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.492C>T",
"hgvs_p": "p.Ser164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001329.4",
"protein_coding": true,
"protein_id": "ENSP00000338615.5",
"strand": false,
"transcript": "ENST00000337195.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 985,
"aa_ref": "S",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8471,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 2958,
"cds_start": 2112,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000309035.11",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.2112C>T",
"hgvs_p": "p.Ser704Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311825.6",
"strand": false,
"transcript": "ENST00000309035.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 513,
"aa_ref": "S",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1542,
"cds_start": 696,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000334808.10",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.696C>T",
"hgvs_p": "p.Ser232Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357816.5",
"strand": false,
"transcript": "ENST00000334808.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2949,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1338,
"cds_start": 492,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000411419.7",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.492C>T",
"hgvs_p": "p.Ser164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410474.2",
"strand": false,
"transcript": "ENST00000411419.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2014,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1338,
"cds_start": 492,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000494626.6",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.492C>T",
"hgvs_p": "p.Ser164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436285.1",
"strand": false,
"transcript": "ENST00000494626.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 985,
"aa_ref": "S",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8471,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 2958,
"cds_start": 2112,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_022802.3",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.2112C>T",
"hgvs_p": "p.Ser704Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_073713.2",
"strand": false,
"transcript": "NM_022802.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2579,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1593,
"cds_start": 747,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000904093.1",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.747C>T",
"hgvs_p": "p.Ser249Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574152.1",
"strand": false,
"transcript": "ENST00000904093.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 513,
"aa_ref": "S",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6953,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1542,
"cds_start": 696,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001363508.2",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.696C>T",
"hgvs_p": "p.Ser232Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350437.1",
"strand": false,
"transcript": "NM_001363508.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6948,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1338,
"cds_start": 492,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001083914.3",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.492C>T",
"hgvs_p": "p.Ser164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001077383.1",
"strand": false,
"transcript": "NM_001083914.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6986,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1338,
"cds_start": 492,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001290214.3",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.492C>T",
"hgvs_p": "p.Ser164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277143.1",
"strand": false,
"transcript": "NM_001290214.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6887,
"cdna_start": 840,
"cds_end": null,
"cds_length": 1338,
"cds_start": 492,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001290215.3",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.492C>T",
"hgvs_p": "p.Ser164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277144.1",
"strand": false,
"transcript": "NM_001290215.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6845,
"cdna_start": 798,
"cds_end": null,
"cds_length": 1338,
"cds_start": 492,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001321012.2",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.492C>T",
"hgvs_p": "p.Ser164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307941.1",
"strand": false,
"transcript": "NM_001321012.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6783,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1338,
"cds_start": 492,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001321013.2",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.492C>T",
"hgvs_p": "p.Ser164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307942.1",
"strand": false,
"transcript": "NM_001321013.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6884,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1338,
"cds_start": 492,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001321014.2",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.492C>T",
"hgvs_p": "p.Ser164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307943.1",
"strand": false,
"transcript": "NM_001321014.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 779,
"cds_end": null,
"cds_length": 1338,
"cds_start": 492,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000531469.5",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.492C>T",
"hgvs_p": "p.Ser164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434630.1",
"strand": false,
"transcript": "ENST00000531469.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2864,
"cdna_start": 835,
"cds_end": null,
"cds_length": 1338,
"cds_start": 492,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000904058.1",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.492C>T",
"hgvs_p": "p.Ser164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574117.1",
"strand": false,
"transcript": "ENST00000904058.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1338,
"cds_start": 492,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000904059.1",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.492C>T",
"hgvs_p": "p.Ser164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574118.1",
"strand": false,
"transcript": "ENST00000904059.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 445,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4012,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1338,
"cds_start": 492,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000904060.1",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.492C>T",
"hgvs_p": "p.Ser164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574119.1",
"strand": false,
"transcript": "ENST00000904060.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": 1058,
"cds_end": null,
"cds_length": 1338,
"cds_start": 492,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904061.1",
"gene_hgnc_id": 2495,
"gene_symbol": "CTBP2",
"hgvs_c": "c.492C>T",
"hgvs_p": "p.Ser164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574120.1",
"strand": false,
"transcript": "ENST00000904061.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2860,
"cdna_start": 834,
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