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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: 3-45496316-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=45496316&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LARS2",
"hgnc_id": 17095,
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_015340.4",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PP5_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LARS2-AS1",
"hgnc_id": 40796,
"hgvs_c": "n.261-816G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 12,
"score": 12,
"transcript": "ENST00000442534.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PP5_Very_Strong",
"acmg_score": 12,
"allele_count_reference_population": 562,
"alphamissense_prediction": null,
"alphamissense_score": 0.829,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"chr": "3",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,Inborn genetic diseases,LARS2-Related Disorders,LARS2-related disorder,Perrault syndrome,Perrault syndrome 4,Rare genetic deafness,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:9 LP:2 O:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7127152681350708,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 903,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4781,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 2712,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_015340.4",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000645846.2",
"protein_coding": true,
"protein_id": "NP_056155.1",
"strand": true,
"transcript": "NM_015340.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 903,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4781,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 2712,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000645846.2",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015340.4",
"protein_coding": true,
"protein_id": "ENSP00000495093.1",
"strand": true,
"transcript": "ENST00000645846.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4169,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000265537.8",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "n.1565C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000265537.4",
"strand": true,
"transcript": "ENST00000265537.8",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 937,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4313,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 2814,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000935381.1",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605440.1",
"strand": true,
"transcript": "ENST00000935381.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 903,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4715,
"cdna_start": 1691,
"cds_end": null,
"cds_length": 2712,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001368263.1",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355192.1",
"strand": true,
"transcript": "NM_001368263.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 903,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4139,
"cdna_start": 1923,
"cds_end": null,
"cds_length": 2712,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000642274.1",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495707.1",
"strand": true,
"transcript": "ENST00000642274.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 903,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10049,
"cdna_start": 1706,
"cds_end": null,
"cds_length": 2712,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000650792.2",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498867.1",
"strand": true,
"transcript": "ENST00000650792.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 903,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4704,
"cdna_start": 1680,
"cds_end": null,
"cds_length": 2712,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000872207.1",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542266.1",
"strand": true,
"transcript": "ENST00000872207.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 903,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4328,
"cdna_start": 1881,
"cds_end": null,
"cds_length": 2712,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000872209.1",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542268.1",
"strand": true,
"transcript": "ENST00000872209.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 903,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4886,
"cdna_start": 1868,
"cds_end": null,
"cds_length": 2712,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000935377.1",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605436.1",
"strand": true,
"transcript": "ENST00000935377.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 903,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4237,
"cdna_start": 1783,
"cds_end": null,
"cds_length": 2712,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000935379.1",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605438.1",
"strand": true,
"transcript": "ENST00000935379.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 903,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4190,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 2712,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000935382.1",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605441.1",
"strand": true,
"transcript": "ENST00000935382.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 903,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4262,
"cdna_start": 1808,
"cds_end": null,
"cds_length": 2712,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000935384.1",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605443.1",
"strand": true,
"transcript": "ENST00000935384.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 903,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4321,
"cdna_start": 1871,
"cds_end": null,
"cds_length": 2712,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000953712.1",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623771.1",
"strand": true,
"transcript": "ENST00000953712.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 903,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4310,
"cdna_start": 1861,
"cds_end": null,
"cds_length": 2712,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000953713.1",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623772.1",
"strand": true,
"transcript": "ENST00000953713.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 886,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4153,
"cdna_start": 1753,
"cds_end": null,
"cds_length": 2661,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000953714.1",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623773.1",
"strand": true,
"transcript": "ENST00000953714.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 877,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4749,
"cdna_start": 1785,
"cds_end": null,
"cds_length": 2634,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872206.1",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542265.1",
"strand": true,
"transcript": "ENST00000872206.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 877,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4064,
"cdna_start": 1688,
"cds_end": null,
"cds_length": 2634,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000872212.1",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542271.1",
"strand": true,
"transcript": "ENST00000872212.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 873,
"aa_ref": "T",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4121,
"cdna_start": 1667,
"cds_end": null,
"cds_length": 2622,
"cds_start": 1475,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000872211.1",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1475C>A",
"hgvs_p": "p.Thr492Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542270.1",
"strand": true,
"transcript": "ENST00000872211.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 873,
"aa_ref": "T",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": 1650,
"cds_end": null,
"cds_length": 2622,
"cds_start": 1475,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000935378.1",
"gene_hgnc_id": 17095,
"gene_symbol": "LARS2",
"hgvs_c": "c.1475C>A",
"hgvs_p": "p.Thr492Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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