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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-ATT-TTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=220114338&ref=ATT&alt=TTA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "IARS2",
"hgnc_id": 29685,
"hgvs_c": "c.1504_1506delATTinsTTA",
"hgvs_p": "p.Ile502Leu",
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_018060.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "BPNT1",
"hgnc_id": 1096,
"hgvs_c": "c.-143+4645_-143+4647delAATinsTAA",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000851065.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "I",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3530,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 3039,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_018060.4",
"gene_hgnc_id": 29685,
"gene_symbol": "IARS2",
"hgvs_c": "c.1504_1506delATTinsTTA",
"hgvs_p": "p.Ile502Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366922.3",
"protein_coding": true,
"protein_id": "NP_060530.3",
"strand": true,
"transcript": "NM_018060.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "I",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3530,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 3039,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000366922.3",
"gene_hgnc_id": 29685,
"gene_symbol": "IARS2",
"hgvs_c": "c.1504_1506delATTinsTTA",
"hgvs_p": "p.Ile502Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018060.4",
"protein_coding": true,
"protein_id": "ENSP00000355889.2",
"strand": true,
"transcript": "ENST00000366922.3",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "I",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3629,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 3135,
"cds_start": 1600,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930953.1",
"gene_hgnc_id": 29685,
"gene_symbol": "IARS2",
"hgvs_c": "c.1600_1602delATTinsTTA",
"hgvs_p": "p.Ile534Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601012.1",
"strand": true,
"transcript": "ENST00000930953.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1021,
"aa_ref": "I",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3565,
"cdna_start": 1597,
"cds_end": null,
"cds_length": 3066,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948321.1",
"gene_hgnc_id": 29685,
"gene_symbol": "IARS2",
"hgvs_c": "c.1504_1506delATTinsTTA",
"hgvs_p": "p.Ile502Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618380.1",
"strand": true,
"transcript": "ENST00000948321.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1021,
"aa_ref": "I",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3559,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 3066,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948322.1",
"gene_hgnc_id": 29685,
"gene_symbol": "IARS2",
"hgvs_c": "c.1504_1506delATTinsTTA",
"hgvs_p": "p.Ile502Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618381.1",
"strand": true,
"transcript": "ENST00000948322.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "I",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3525,
"cdna_start": 1567,
"cds_end": null,
"cds_length": 3063,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948323.1",
"gene_hgnc_id": 29685,
"gene_symbol": "IARS2",
"hgvs_c": "c.1504_1506delATTinsTTA",
"hgvs_p": "p.Ile502Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618382.1",
"strand": true,
"transcript": "ENST00000948323.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "I",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3549,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 3033,
"cds_start": 1498,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873464.1",
"gene_hgnc_id": 29685,
"gene_symbol": "IARS2",
"hgvs_c": "c.1498_1500delATTinsTTA",
"hgvs_p": "p.Ile500Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543523.1",
"strand": true,
"transcript": "ENST00000873464.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "I",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 3024,
"cds_start": 1489,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930954.1",
"gene_hgnc_id": 29685,
"gene_symbol": "IARS2",
"hgvs_c": "c.1489_1491delATTinsTTA",
"hgvs_p": "p.Ile497Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601013.1",
"strand": true,
"transcript": "ENST00000930954.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "I",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3523,
"cdna_start": 1607,
"cds_end": null,
"cds_length": 3021,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948320.1",
"gene_hgnc_id": 29685,
"gene_symbol": "IARS2",
"hgvs_c": "c.1504_1506delATTinsTTA",
"hgvs_p": "p.Ile502Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618379.1",
"strand": true,
"transcript": "ENST00000948320.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 971,
"aa_ref": "I",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3368,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 2916,
"cds_start": 1381,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930955.1",
"gene_hgnc_id": 29685,
"gene_symbol": "IARS2",
"hgvs_c": "c.1381_1383delATTinsTTA",
"hgvs_p": "p.Ile461Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601014.1",
"strand": true,
"transcript": "ENST00000930955.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 924,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3285,
"cdna_start": null,
"cds_end": null,
"cds_length": 2775,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873465.1",
"gene_hgnc_id": 29685,
"gene_symbol": "IARS2",
"hgvs_c": "c.1479+3401_1479+3403delATTinsTTA",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543524.1",
"strand": true,
"transcript": "ENST00000873465.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 308,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2582,
"cdna_start": null,
"cds_end": null,
"cds_length": 927,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851065.1",
"gene_hgnc_id": 1096,
"gene_symbol": "BPNT1",
"hgvs_c": "c.-143+4645_-143+4647delAATinsTAA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521129.1",
"strand": false,
"transcript": "ENST00000851065.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5296,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000851066.1",
"gene_hgnc_id": 1096,
"gene_symbol": "BPNT1",
"hgvs_c": "n.3673_3675delAATinsTAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000851066.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 447,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000490891.1",
"gene_hgnc_id": 29685,
"gene_symbol": "IARS2",
"hgvs_c": "n.-113_-111delATTinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000490891.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 29685,
"gene_symbol": "IARS2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.395,
"pos": 220114338,
"ref": "ATT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_018060.4"
}
]
}