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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: 3-45485702-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=45485702&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 45485702,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_015340.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Thr343Thr",
"transcript": "NM_015340.4",
"protein_id": "NP_056155.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 903,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": "ENST00000645846.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015340.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Thr343Thr",
"transcript": "ENST00000645846.2",
"protein_id": "ENSP00000495093.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 903,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": "NM_015340.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645846.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "n.1029G>A",
"hgvs_p": null,
"transcript": "ENST00000265537.8",
"protein_id": "ENSP00000265537.4",
"transcript_support_level": 1,
"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": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000265537.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Thr343Thr",
"transcript": "ENST00000935381.1",
"protein_id": "ENSP00000605440.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 937,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935381.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Thr343Thr",
"transcript": "NM_001368263.1",
"protein_id": "NP_001355192.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 903,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 4715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368263.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Thr343Thr",
"transcript": "ENST00000642274.1",
"protein_id": "ENSP00000495707.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 903,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642274.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Thr343Thr",
"transcript": "ENST00000650792.2",
"protein_id": "ENSP00000498867.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 903,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 10049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650792.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Thr343Thr",
"transcript": "ENST00000872207.1",
"protein_id": "ENSP00000542266.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 903,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 4704,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872207.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Thr343Thr",
"transcript": "ENST00000872209.1",
"protein_id": "ENSP00000542268.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 903,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 4328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872209.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Thr343Thr",
"transcript": "ENST00000935377.1",
"protein_id": "ENSP00000605436.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 903,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 4886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935377.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Thr343Thr",
"transcript": "ENST00000935379.1",
"protein_id": "ENSP00000605438.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 903,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 4237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935379.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Thr343Thr",
"transcript": "ENST00000935382.1",
"protein_id": "ENSP00000605441.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 903,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935382.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Thr343Thr",
"transcript": "ENST00000935384.1",
"protein_id": "ENSP00000605443.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 903,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 4262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935384.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Thr343Thr",
"transcript": "ENST00000953712.1",
"protein_id": "ENSP00000623771.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 903,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953712.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Thr343Thr",
"transcript": "ENST00000953713.1",
"protein_id": "ENSP00000623772.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 903,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953713.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Thr343Thr",
"transcript": "ENST00000953714.1",
"protein_id": "ENSP00000623773.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 886,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953714.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Thr343Thr",
"transcript": "ENST00000872206.1",
"protein_id": "ENSP00000542265.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 877,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 4749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872206.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Thr343Thr",
"transcript": "ENST00000872212.1",
"protein_id": "ENSP00000542271.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 877,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872212.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Thr313Thr",
"transcript": "ENST00000872211.1",
"protein_id": "ENSP00000542270.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 873,
"cds_start": 939,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872211.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Thr313Thr",
"transcript": "ENST00000935378.1",
"protein_id": "ENSP00000605437.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 873,
"cds_start": 939,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 4099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935378.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.921G>A",
"hgvs_p": "p.Thr307Thr",
"transcript": "ENST00000872210.1",
"protein_id": "ENSP00000542269.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 867,
"cds_start": 921,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 4106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872210.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.900G>A",
"hgvs_p": "p.Thr300Thr",
"transcript": "ENST00000414984.5",
"protein_id": "ENSP00000412893.1",
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{
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"BP6_Moderate"
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}