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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: 7-108149972-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=108149972&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 108149972,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001371156.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3853G>A",
"hgvs_p": "p.Ala1285Thr",
"transcript": "NM_001037132.4",
"protein_id": "NP_001032209.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3853,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379028.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037132.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3853G>A",
"hgvs_p": "p.Ala1285Thr",
"transcript": "ENST00000379028.8",
"protein_id": "ENSP00000368314.3",
"transcript_support_level": 5,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3853,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001037132.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379028.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3517G>A",
"hgvs_p": "p.Ala1173Thr",
"transcript": "ENST00000379024.8",
"protein_id": "ENSP00000368310.4",
"transcript_support_level": 1,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3517,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379024.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3490G>A",
"hgvs_p": "p.Ala1164Thr",
"transcript": "ENST00000351718.8",
"protein_id": "ENSP00000325269.6",
"transcript_support_level": 1,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1183,
"cds_start": 3490,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351718.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "n.486G>A",
"hgvs_p": null,
"transcript": "ENST00000522550.2",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000522550.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3862G>A",
"hgvs_p": "p.Ala1288Thr",
"transcript": "NM_001371156.1",
"protein_id": "NP_001358085.1",
"transcript_support_level": null,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1307,
"cds_start": 3862,
"cds_end": null,
"cds_length": 3924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371156.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3853G>A",
"hgvs_p": "p.Ala1285Thr",
"transcript": "NM_001371131.1",
"protein_id": "NP_001358060.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3853,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371131.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3817G>A",
"hgvs_p": "p.Ala1273Thr",
"transcript": "NM_001371169.1",
"protein_id": "NP_001358098.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3817,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371169.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3805G>A",
"hgvs_p": "p.Ala1269Thr",
"transcript": "NM_001371119.1",
"protein_id": "NP_001358048.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3805,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371119.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3796G>A",
"hgvs_p": "p.Ala1266Thr",
"transcript": "NM_001371124.1",
"protein_id": "NP_001358053.1",
"transcript_support_level": null,
"aa_start": 1266,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3796,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371124.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3796G>A",
"hgvs_p": "p.Ala1266Thr",
"transcript": "NM_001371126.1",
"protein_id": "NP_001358055.1",
"transcript_support_level": null,
"aa_start": 1266,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3796,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371126.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3796G>A",
"hgvs_p": "p.Ala1266Thr",
"transcript": "NM_001371172.1",
"protein_id": "NP_001358101.1",
"transcript_support_level": null,
"aa_start": 1266,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3796,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371172.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3796G>A",
"hgvs_p": "p.Ala1266Thr",
"transcript": "ENST00000953264.1",
"protein_id": "ENSP00000623323.1",
"transcript_support_level": null,
"aa_start": 1266,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3796,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953264.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3760G>A",
"hgvs_p": "p.Ala1254Thr",
"transcript": "NM_001371146.1",
"protein_id": "NP_001358075.1",
"transcript_support_level": null,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3760,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371146.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3691G>A",
"hgvs_p": "p.Ala1231Thr",
"transcript": "NM_001371138.1",
"protein_id": "NP_001358067.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3691,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371138.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3691G>A",
"hgvs_p": "p.Ala1231Thr",
"transcript": "ENST00000953263.1",
"protein_id": "ENSP00000623322.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3691,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953263.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3670G>A",
"hgvs_p": "p.Ala1224Thr",
"transcript": "NM_001371158.1",
"protein_id": "NP_001358087.1",
"transcript_support_level": null,
"aa_start": 1224,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3670,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371158.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3670G>A",
"hgvs_p": "p.Ala1224Thr",
"transcript": "ENST00000953265.1",
"protein_id": "ENSP00000623324.1",
"transcript_support_level": null,
"aa_start": 1224,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3670,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953265.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3643G>A",
"hgvs_p": "p.Ala1215Thr",
"transcript": "NM_001371145.1",
"protein_id": "NP_001358074.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1234,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371145.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3616G>A",
"hgvs_p": "p.Ala1206Thr",
"transcript": "NM_001371136.1",
"protein_id": "NP_001358065.1",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3616,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371136.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3607G>A",
"hgvs_p": "p.Ala1203Thr",
"transcript": "NM_001371140.1",
"protein_id": "NP_001358069.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1222,
"cds_start": 3607,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371140.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Ala1195Thr",
"transcript": "NM_001371123.1",
"protein_id": "NP_001358052.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1214,
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
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"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.2,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
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"acmg_score": -20,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
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"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "NRCAM-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|NRCAM-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}