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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: 17-45169670-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45169670&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HEXIM2",
"hgnc_id": 28591,
"hgvs_c": "c.788C>G",
"hgvs_p": "p.Thr263Ser",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001303436.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "HEXIM2-AS2",
"hgnc_id": 56693,
"hgvs_c": "n.1183G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000589796.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.0803,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04441457986831665,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1436,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001303441.2",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000589230.6",
"protein_coding": true,
"protein_id": "NP_001290370.1",
"strand": true,
"transcript": "NM_001303441.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1436,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000589230.6",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001303441.2",
"protein_coding": true,
"protein_id": "ENSP00000466200.2",
"strand": true,
"transcript": "ENST00000589230.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1176,
"cdna_start": 811,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000591576.5",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465727.1",
"strand": true,
"transcript": "ENST00000591576.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1246,
"cdna_start": 881,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000592695.1",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467517.1",
"strand": true,
"transcript": "ENST00000592695.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 308,
"aa_ref": "T",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1906,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 927,
"cds_start": 788,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001303436.1",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.788C>G",
"hgvs_p": "p.Thr263Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290365.1",
"strand": true,
"transcript": "NM_001303436.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 1989,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001303437.1",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290366.1",
"strand": true,
"transcript": "NM_001303437.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2211,
"cdna_start": 1841,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001303438.1",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290367.1",
"strand": true,
"transcript": "NM_001303438.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2363,
"cdna_start": 1993,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001303439.1",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290368.1",
"strand": true,
"transcript": "NM_001303439.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1288,
"cdna_start": 923,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001303440.2",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290369.1",
"strand": true,
"transcript": "NM_001303440.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1196,
"cdna_start": 831,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001303442.2",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290371.1",
"strand": true,
"transcript": "NM_001303442.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1344,
"cdna_start": 979,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001303443.2",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290372.1",
"strand": true,
"transcript": "NM_001303443.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1199,
"cdna_start": 834,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001303444.2",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290373.1",
"strand": true,
"transcript": "NM_001303444.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2054,
"cdna_start": 1684,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_144608.2",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_653209.1",
"strand": true,
"transcript": "NM_144608.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1528,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000307275.7",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000302276.2",
"strand": true,
"transcript": "ENST00000307275.7",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1345,
"cdna_start": 980,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000585340.2",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468251.2",
"strand": true,
"transcript": "ENST00000585340.2",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1438,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000586681.6",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465086.2",
"strand": true,
"transcript": "ENST00000586681.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1323,
"cdna_start": 958,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000591070.6",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464807.2",
"strand": true,
"transcript": "ENST00000591070.6",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1302,
"cdna_start": 937,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000593138.6",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468773.2",
"strand": true,
"transcript": "ENST00000593138.6",
"transcript_support_level": 3
},
{
"aa_alt": "S",
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"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3728,
"cdna_start": 2700,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000894989.1",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565048.1",
"strand": true,
"transcript": "ENST00000894989.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 861,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000894990.1",
"gene_hgnc_id": 28591,
"gene_symbol": "HEXIM2",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565049.1",
"strand": true,
"transcript": "ENST00000894990.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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