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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: 18-3253252-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=3253252&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYL12A",
"hgnc_id": 16701,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ser8Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001303049.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 22,
"alphamissense_prediction": null,
"alphamissense_score": 0.4195,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7122172117233276,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 958,
"cdna_start": 129,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_006471.4",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000217652.8",
"protein_coding": true,
"protein_id": "NP_006462.1",
"strand": true,
"transcript": "NM_006471.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 958,
"cdna_start": 129,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000217652.8",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006471.4",
"protein_coding": true,
"protein_id": "ENSP00000217652.3",
"strand": true,
"transcript": "ENST00000217652.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 177,
"aa_ref": "S",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 899,
"cdna_start": 71,
"cds_end": null,
"cds_length": 534,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000580887.5",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ser8Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464359.1",
"strand": true,
"transcript": "ENST00000580887.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 899,
"cdna_start": 71,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000536605.1",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441231.1",
"strand": true,
"transcript": "ENST00000536605.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 177,
"aa_ref": "S",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 900,
"cdna_start": 71,
"cds_end": null,
"cds_length": 534,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001303049.2",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ser8Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289978.1",
"strand": true,
"transcript": "NM_001303049.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1041,
"cdna_start": 212,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001303047.2",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289976.1",
"strand": true,
"transcript": "NM_001303047.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 956,
"cdna_start": 126,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001303048.1",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289977.1",
"strand": true,
"transcript": "NM_001303048.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1004,
"cdna_start": 200,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000578611.5",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463614.1",
"strand": true,
"transcript": "ENST00000578611.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 947,
"cdna_start": 127,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000579226.5",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462171.1",
"strand": true,
"transcript": "ENST00000579226.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1178,
"cdna_start": 355,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855660.1",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525719.1",
"strand": true,
"transcript": "ENST00000855660.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1065,
"cdna_start": 242,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000855661.1",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525720.1",
"strand": true,
"transcript": "ENST00000855661.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1130,
"cdna_start": 301,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000855662.1",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525721.1",
"strand": true,
"transcript": "ENST00000855662.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1329,
"cdna_start": 502,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000855663.1",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525722.1",
"strand": true,
"transcript": "ENST00000855663.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1121,
"cdna_start": 298,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855664.1",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525723.1",
"strand": true,
"transcript": "ENST00000855664.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1192,
"cdna_start": 363,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855665.1",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525724.1",
"strand": true,
"transcript": "ENST00000855665.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3670,
"cdna_start": 2841,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000855666.1",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525725.1",
"strand": true,
"transcript": "ENST00000855666.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1705,
"cdna_start": 875,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000855667.1",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525726.1",
"strand": true,
"transcript": "ENST00000855667.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 925,
"cdna_start": 98,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000855668.1",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525727.1",
"strand": true,
"transcript": "ENST00000855668.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 967,
"cdna_start": 138,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000855669.1",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525728.1",
"strand": true,
"transcript": "ENST00000855669.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 940,
"cdna_start": 111,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000855670.1",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525729.1",
"strand": true,
"transcript": "ENST00000855670.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 171,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1025,
"cdna_start": 196,
"cds_end": null,
"cds_length": 516,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922826.1",
"gene_hgnc_id": 16701,
"gene_symbol": "MYL12A",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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