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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: 12-56471554-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56471554&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56471554,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000311966.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1742T>C",
"hgvs_p": "p.Leu581Pro",
"transcript": "NM_013267.4",
"protein_id": "NP_037399.2",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 602,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": "ENST00000311966.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1742T>C",
"hgvs_p": "p.Leu581Pro",
"transcript": "ENST00000311966.9",
"protein_id": "ENSP00000310447.4",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 602,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": "NM_013267.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.947T>C",
"hgvs_p": "p.Leu316Pro",
"transcript": "ENST00000623608.3",
"protein_id": "ENSP00000485315.1",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 337,
"cds_start": 947,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.790T>C",
"hgvs_p": null,
"transcript": "ENST00000390288.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*1078T>C",
"hgvs_p": null,
"transcript": "ENST00000424141.6",
"protein_id": "ENSP00000416282.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*831T>C",
"hgvs_p": null,
"transcript": "ENST00000486433.5",
"protein_id": "ENSP00000420328.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRYD4",
"gene_hgnc_id": 27468,
"hgvs_c": "c.*1977A>G",
"hgvs_p": null,
"transcript": "NM_207344.4",
"protein_id": "NP_997227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": -4,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10769,
"mane_select": "ENST00000338146.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRYD4",
"gene_hgnc_id": 27468,
"hgvs_c": "c.*1977A>G",
"hgvs_p": null,
"transcript": "ENST00000338146.7",
"protein_id": "ENSP00000338034.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": -4,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10769,
"mane_select": "NM_207344.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.*721T>C",
"hgvs_p": null,
"transcript": "ENST00000539272.5",
"protein_id": "ENSP00000441739.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": -4,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*1078T>C",
"hgvs_p": null,
"transcript": "ENST00000424141.6",
"protein_id": "ENSP00000416282.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*831T>C",
"hgvs_p": null,
"transcript": "ENST00000486433.5",
"protein_id": "ENSP00000420328.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285528",
"gene_hgnc_id": null,
"hgvs_c": "n.182+16383T>C",
"hgvs_p": null,
"transcript": "ENST00000648304.1",
"protein_id": "ENSP00000497190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.947T>C",
"hgvs_p": "p.Leu316Pro",
"transcript": "NM_001280797.2",
"protein_id": "NP_001267726.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 337,
"cds_start": 947,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.947T>C",
"hgvs_p": "p.Leu316Pro",
"transcript": "NM_001280798.2",
"protein_id": "NP_001267727.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 337,
"cds_start": 947,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.947T>C",
"hgvs_p": "p.Leu316Pro",
"transcript": "ENST00000610413.4",
"protein_id": "ENSP00000483010.1",
"transcript_support_level": 5,
"aa_start": 316,
"aa_end": null,
"aa_length": 337,
"cds_start": 947,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.914T>C",
"hgvs_p": "p.Leu305Pro",
"transcript": "NM_001280796.2",
"protein_id": "NP_001267725.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 326,
"cds_start": 914,
"cds_end": null,
"cds_length": 981,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 2460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1634T>C",
"hgvs_p": "p.Leu545Pro",
"transcript": "XM_005268797.1",
"protein_id": "XP_005268854.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 566,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*735T>C",
"hgvs_p": null,
"transcript": "ENST00000479952.5",
"protein_id": "ENSP00000417796.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*735T>C",
"hgvs_p": null,
"transcript": "ENST00000479952.5",
"protein_id": "ENSP00000417796.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"dbsnp": "rs2657879",
"frequency_reference_population": 0.1756087,
"hom_count_reference_population": 26333,
"allele_count_reference_population": 283365,
"gnomad_exomes_af": 0.178219,
"gnomad_genomes_af": 0.150512,
"gnomad_exomes_ac": 260486,
"gnomad_genomes_ac": 22879,
"gnomad_exomes_homalt": 24309,
"gnomad_genomes_homalt": 2024,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004509240388870239,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.0519,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.136,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000311966.9",
"gene_symbol": "GLS2",
"hgnc_id": 29570,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1742T>C",
"hgvs_p": "p.Leu581Pro"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000338146.7",
"gene_symbol": "SPRYD4",
"hgnc_id": 27468,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1977A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000648304.1",
"gene_symbol": "ENSG00000285528",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.182+16383T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}