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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: 1-220114338-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=220114338&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 220114338,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018060.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS2",
"gene_hgnc_id": 29685,
"hgvs_c": "c.1504A>G",
"hgvs_p": "p.Ile502Val",
"transcript": "NM_018060.4",
"protein_id": "NP_060530.3",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1504,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366922.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018060.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS2",
"gene_hgnc_id": 29685,
"hgvs_c": "c.1504A>G",
"hgvs_p": "p.Ile502Val",
"transcript": "ENST00000366922.3",
"protein_id": "ENSP00000355889.2",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1504,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018060.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366922.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS2",
"gene_hgnc_id": 29685,
"hgvs_c": "c.1600A>G",
"hgvs_p": "p.Ile534Val",
"transcript": "ENST00000930953.1",
"protein_id": "ENSP00000601012.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 1044,
"cds_start": 1600,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930953.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS2",
"gene_hgnc_id": 29685,
"hgvs_c": "c.1504A>G",
"hgvs_p": "p.Ile502Val",
"transcript": "ENST00000948321.1",
"protein_id": "ENSP00000618380.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 1021,
"cds_start": 1504,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948321.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS2",
"gene_hgnc_id": 29685,
"hgvs_c": "c.1504A>G",
"hgvs_p": "p.Ile502Val",
"transcript": "ENST00000948322.1",
"protein_id": "ENSP00000618381.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 1021,
"cds_start": 1504,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948322.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS2",
"gene_hgnc_id": 29685,
"hgvs_c": "c.1504A>G",
"hgvs_p": "p.Ile502Val",
"transcript": "ENST00000948323.1",
"protein_id": "ENSP00000618382.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1504,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948323.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS2",
"gene_hgnc_id": 29685,
"hgvs_c": "c.1498A>G",
"hgvs_p": "p.Ile500Val",
"transcript": "ENST00000873464.1",
"protein_id": "ENSP00000543523.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 1010,
"cds_start": 1498,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873464.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS2",
"gene_hgnc_id": 29685,
"hgvs_c": "c.1489A>G",
"hgvs_p": "p.Ile497Val",
"transcript": "ENST00000930954.1",
"protein_id": "ENSP00000601013.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 1007,
"cds_start": 1489,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930954.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS2",
"gene_hgnc_id": 29685,
"hgvs_c": "c.1504A>G",
"hgvs_p": "p.Ile502Val",
"transcript": "ENST00000948320.1",
"protein_id": "ENSP00000618379.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1504,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948320.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS2",
"gene_hgnc_id": 29685,
"hgvs_c": "c.1381A>G",
"hgvs_p": "p.Ile461Val",
"transcript": "ENST00000930955.1",
"protein_id": "ENSP00000601014.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 971,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930955.1"
},
{
"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": 21,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "IARS2",
"gene_hgnc_id": 29685,
"hgvs_c": "c.1479+3401A>G",
"hgvs_p": null,
"transcript": "ENST00000873465.1",
"protein_id": "ENSP00000543524.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": null,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873465.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BPNT1",
"gene_hgnc_id": 1096,
"hgvs_c": "c.-143+4647T>C",
"hgvs_p": null,
"transcript": "ENST00000851065.1",
"protein_id": "ENSP00000521129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": null,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851065.1"
},
{
"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": "BPNT1",
"gene_hgnc_id": 1096,
"hgvs_c": "n.3675T>C",
"hgvs_p": null,
"transcript": "ENST00000851066.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000851066.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS2",
"gene_hgnc_id": 29685,
"hgvs_c": "n.-113A>G",
"hgvs_p": null,
"transcript": "ENST00000490891.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000490891.1"
}
],
"gene_symbol": "IARS2",
"gene_hgnc_id": 29685,
"dbsnp": "rs747014267",
"frequency_reference_population": 6.841499e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8415e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1488167643547058,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.0884,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.648,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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_018060.4",
"gene_symbol": "IARS2",
"hgnc_id": 29685,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1504A>G",
"hgvs_p": "p.Ile502Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000851065.1",
"gene_symbol": "BPNT1",
"hgnc_id": 1096,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-143+4647T>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
}