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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: 3-45547420-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=45547420&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 45547420,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015340.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Glu868Lys",
"transcript": "NM_015340.4",
"protein_id": "NP_056155.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 903,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000645846.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015340.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Glu868Lys",
"transcript": "ENST00000645846.2",
"protein_id": "ENSP00000495093.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 903,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "n.*992G>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000265537.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "n.*992G>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000265537.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2704G>A",
"hgvs_p": "p.Glu902Lys",
"transcript": "ENST00000935381.1",
"protein_id": "ENSP00000605440.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 937,
"cds_start": 2704,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935381.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Glu868Lys",
"transcript": "NM_001368263.1",
"protein_id": "NP_001355192.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 903,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368263.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Glu868Lys",
"transcript": "ENST00000642274.1",
"protein_id": "ENSP00000495707.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 903,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642274.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Glu868Lys",
"transcript": "ENST00000650792.2",
"protein_id": "ENSP00000498867.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 903,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650792.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Glu868Lys",
"transcript": "ENST00000872207.1",
"protein_id": "ENSP00000542266.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 903,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872207.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Glu868Lys",
"transcript": "ENST00000872209.1",
"protein_id": "ENSP00000542268.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 903,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872209.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Glu868Lys",
"transcript": "ENST00000935377.1",
"protein_id": "ENSP00000605436.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 903,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935377.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Glu868Lys",
"transcript": "ENST00000935379.1",
"protein_id": "ENSP00000605438.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 903,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935379.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Glu868Lys",
"transcript": "ENST00000935382.1",
"protein_id": "ENSP00000605441.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 903,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935382.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Glu868Lys",
"transcript": "ENST00000935384.1",
"protein_id": "ENSP00000605443.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 903,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935384.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Glu868Lys",
"transcript": "ENST00000953712.1",
"protein_id": "ENSP00000623771.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 903,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953712.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Glu868Lys",
"transcript": "ENST00000953713.1",
"protein_id": "ENSP00000623772.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 903,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953713.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2551G>A",
"hgvs_p": "p.Glu851Lys",
"transcript": "ENST00000953714.1",
"protein_id": "ENSP00000623773.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 886,
"cds_start": 2551,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953714.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2524G>A",
"hgvs_p": "p.Glu842Lys",
"transcript": "ENST00000872206.1",
"protein_id": "ENSP00000542265.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 877,
"cds_start": 2524,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872206.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2524G>A",
"hgvs_p": "p.Glu842Lys",
"transcript": "ENST00000872212.1",
"protein_id": "ENSP00000542271.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 877,
"cds_start": 2524,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872212.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Glu838Lys",
"transcript": "ENST00000872211.1",
"protein_id": "ENSP00000542270.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 873,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872211.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Glu838Lys",
"transcript": "ENST00000935378.1",
"protein_id": "ENSP00000605437.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 873,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935378.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2494G>A",
"hgvs_p": "p.Glu832Lys",
"transcript": "ENST00000872210.1",
"protein_id": "ENSP00000542269.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 867,
"cds_start": 2494,
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],
"gene_symbol": "LARS2",
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"dbsnp": "rs34965084",
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"computational_score_selected": 0.0036411285400390625,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.097,
"revel_prediction": "Benign",
"alphamissense_score": 0.1019,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.485,
"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,
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"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015340.4",
"gene_symbol": "LARS2",
"hgnc_id": 17095,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Glu868Lys"
}
],
"clinvar_disease": "LARS2-related disorder,Perrault syndrome 4,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:1",
"phenotype_combined": "not specified|not provided|LARS2-related disorder|Perrault syndrome 4",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}