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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: 21-29537297-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=29537297&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 29537297,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001330994.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"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": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2783A>G",
"hgvs_p": "p.Lys928Arg",
"transcript": "NM_001330994.2",
"protein_id": "NP_001317923.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 949,
"cds_start": 2783,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327783.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330994.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2783A>G",
"hgvs_p": "p.Lys928Arg",
"transcript": "ENST00000327783.9",
"protein_id": "ENSP00000327687.4",
"transcript_support_level": 5,
"aa_start": 928,
"aa_end": null,
"aa_length": 949,
"cds_start": 2783,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330994.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327783.9"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2651A>G",
"hgvs_p": "p.Lys884Arg",
"transcript": "ENST00000389125.7",
"protein_id": "ENSP00000373777.3",
"transcript_support_level": 1,
"aa_start": 884,
"aa_end": null,
"aa_length": 905,
"cds_start": 2651,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389125.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2738A>G",
"hgvs_p": "p.Lys913Arg",
"transcript": "NM_001330993.2",
"protein_id": "NP_001317922.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 934,
"cds_start": 2738,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330993.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2738A>G",
"hgvs_p": "p.Lys913Arg",
"transcript": "ENST00000399914.5",
"protein_id": "ENSP00000382798.1",
"transcript_support_level": 5,
"aa_start": 913,
"aa_end": null,
"aa_length": 934,
"cds_start": 2738,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399914.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2696A>G",
"hgvs_p": "p.Lys899Arg",
"transcript": "NM_001320616.2",
"protein_id": "NP_001307545.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 920,
"cds_start": 2696,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320616.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2696A>G",
"hgvs_p": "p.Lys899Arg",
"transcript": "ENST00000399913.5",
"protein_id": "ENSP00000382797.1",
"transcript_support_level": 2,
"aa_start": 899,
"aa_end": null,
"aa_length": 920,
"cds_start": 2696,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399913.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2651A>G",
"hgvs_p": "p.Lys884Arg",
"transcript": "NM_175611.3",
"protein_id": "NP_783300.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 905,
"cds_start": 2651,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175611.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2279A>G",
"hgvs_p": "p.Lys760Arg",
"transcript": "NM_001320618.2",
"protein_id": "NP_001307547.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 781,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320618.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2225A>G",
"hgvs_p": "p.Lys742Arg",
"transcript": "NM_001320621.2",
"protein_id": "NP_001307550.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 763,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320621.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BACH1",
"gene_hgnc_id": 935,
"hgvs_c": "c.472-45015T>C",
"hgvs_p": null,
"transcript": "ENST00000422809.5",
"protein_id": "ENSP00000416569.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": null,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422809.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BACH1",
"gene_hgnc_id": 935,
"hgvs_c": "c.325-60273T>C",
"hgvs_p": null,
"transcript": "ENST00000468059.1",
"protein_id": "ENSP00000470673.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468059.1"
}
],
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"dbsnp": "rs770945351",
"frequency_reference_population": 0.000016759444,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000150801,
"gnomad_genomes_af": 0.0000328601,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07148417830467224,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.127,
"revel_prediction": "Benign",
"alphamissense_score": 0.0638,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.445,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330994.2",
"gene_symbol": "GRIK1",
"hgnc_id": 4579,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2783A>G",
"hgvs_p": "p.Lys928Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000468059.1",
"gene_symbol": "BACH1",
"hgnc_id": 935,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.325-60273T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}