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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: 15-22860680-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=22860680&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 22860680,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_030922.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "NM_030922.7",
"protein_id": "NP_112184.4",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337451.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030922.7"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "ENST00000337451.8",
"protein_id": "ENSP00000337618.3",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030922.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337451.8"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "ENST00000398013.7",
"protein_id": "ENSP00000381095.3",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398013.7"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.282A>G",
"hgvs_p": "p.Lys94Lys",
"transcript": "ENST00000359727.8",
"protein_id": "ENSP00000352762.4",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 341,
"cds_start": 282,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359727.8"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "NM_001008860.3",
"protein_id": "NP_001008860.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008860.3"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "NM_001008892.3",
"protein_id": "NP_001008892.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008892.3"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "NM_001184889.2",
"protein_id": "NP_001171818.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184889.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "NM_001437491.1",
"protein_id": "NP_001424420.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437491.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "NM_001437498.1",
"protein_id": "NP_001424427.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437498.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "ENST00000674173.1",
"protein_id": "ENSP00000501408.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674173.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "ENST00000674289.1",
"protein_id": "ENSP00000501412.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674289.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "ENST00000674330.1",
"protein_id": "ENSP00000501373.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674330.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "ENST00000674477.1",
"protein_id": "ENSP00000501489.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674477.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "ENST00000909530.1",
"protein_id": "ENSP00000579589.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909530.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "ENST00000909531.1",
"protein_id": "ENSP00000579590.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909531.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "ENST00000909532.1",
"protein_id": "ENSP00000579591.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909532.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "ENST00000909533.1",
"protein_id": "ENSP00000579592.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909533.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "ENST00000909534.1",
"protein_id": "ENSP00000579593.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909534.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "ENST00000909535.1",
"protein_id": "ENSP00000579594.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909535.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "ENST00000909536.1",
"protein_id": "ENSP00000579595.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909536.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "ENST00000909537.1",
"protein_id": "ENSP00000579596.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909537.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Lys113Lys",
"transcript": "ENST00000909538.1",
"protein_id": "ENSP00000579597.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 360,
"cds_start": 339,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
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],
"gene_symbol": "NIPA2",
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"computational_score_selected": -0.46000000834465027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.342,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -4,
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"pathogenic_score": 0,
"criteria": [
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"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_030922.7",
"gene_symbol": "NIPA2",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "NIPA2-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "NIPA2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}