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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: 12-122279084-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122279084&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 122279084,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001389291.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3709A>G",
"hgvs_p": "p.Ile1237Val",
"transcript": "NM_001247997.2",
"protein_id": "NP_001234926.1",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3709,
"cds_end": null,
"cds_length": 4317,
"cdna_start": 3964,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": "ENST00000620786.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001247997.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3709A>G",
"hgvs_p": "p.Ile1237Val",
"transcript": "ENST00000620786.5",
"protein_id": "ENSP00000479322.1",
"transcript_support_level": 5,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3709,
"cds_end": null,
"cds_length": 4317,
"cdna_start": 3964,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": "NM_001247997.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620786.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3676A>G",
"hgvs_p": "p.Ile1226Val",
"transcript": "ENST00000358808.6",
"protein_id": "ENSP00000351665.2",
"transcript_support_level": 1,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1427,
"cds_start": 3676,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 3831,
"cdna_end": null,
"cdna_length": 5880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358808.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3571A>G",
"hgvs_p": "p.Ile1191Val",
"transcript": "ENST00000537178.5",
"protein_id": "ENSP00000445531.1",
"transcript_support_level": 1,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3571,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 3789,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537178.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.5839A>G",
"hgvs_p": "p.Ile1947Val",
"transcript": "NM_001389291.1",
"protein_id": "NP_001376220.1",
"transcript_support_level": null,
"aa_start": 1947,
"aa_end": null,
"aa_length": 2148,
"cds_start": 5839,
"cds_end": null,
"cds_length": 6447,
"cdna_start": 6094,
"cdna_end": null,
"cdna_length": 8108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389291.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3709A>G",
"hgvs_p": "p.Ile1237Val",
"transcript": "ENST00000971572.1",
"protein_id": "ENSP00000641631.1",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3709,
"cds_end": null,
"cds_length": 4317,
"cdna_start": 4148,
"cdna_end": null,
"cdna_length": 6197,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971572.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3709A>G",
"hgvs_p": "p.Ile1237Val",
"transcript": "ENST00000971573.1",
"protein_id": "ENSP00000641632.1",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3709,
"cds_end": null,
"cds_length": 4317,
"cdna_start": 4621,
"cdna_end": null,
"cdna_length": 6670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971573.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3709A>G",
"hgvs_p": "p.Ile1237Val",
"transcript": "ENST00000971577.1",
"protein_id": "ENSP00000641636.1",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3709,
"cds_end": null,
"cds_length": 4317,
"cdna_start": 4200,
"cdna_end": null,
"cdna_length": 4971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971577.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3676A>G",
"hgvs_p": "p.Ile1226Val",
"transcript": "NM_002956.3",
"protein_id": "NP_002947.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1427,
"cds_start": 3676,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 3931,
"cdna_end": null,
"cdna_length": 5945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002956.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3676A>G",
"hgvs_p": "p.Ile1226Val",
"transcript": "ENST00000302528.11",
"protein_id": "ENSP00000303585.7",
"transcript_support_level": 5,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1427,
"cds_start": 3676,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 3784,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302528.11"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3676A>G",
"hgvs_p": "p.Ile1226Val",
"transcript": "ENST00000859891.1",
"protein_id": "ENSP00000529950.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1427,
"cds_start": 3676,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 4011,
"cdna_end": null,
"cdna_length": 6018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859891.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3676A>G",
"hgvs_p": "p.Ile1226Val",
"transcript": "ENST00000971576.1",
"protein_id": "ENSP00000641635.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1427,
"cds_start": 3676,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 4167,
"cdna_end": null,
"cdna_length": 4938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971576.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3604A>G",
"hgvs_p": "p.Ile1202Val",
"transcript": "ENST00000859888.1",
"protein_id": "ENSP00000529947.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3604,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 3863,
"cdna_end": null,
"cdna_length": 5912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859888.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3604A>G",
"hgvs_p": "p.Ile1202Val",
"transcript": "ENST00000971569.1",
"protein_id": "ENSP00000641628.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3604,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 4105,
"cdna_end": null,
"cdna_length": 6152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971569.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3571A>G",
"hgvs_p": "p.Ile1191Val",
"transcript": "NM_198240.3",
"protein_id": "NP_937883.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3571,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 3826,
"cdna_end": null,
"cdna_length": 5840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198240.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3571A>G",
"hgvs_p": "p.Ile1191Val",
"transcript": "ENST00000859889.1",
"protein_id": "ENSP00000529948.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3571,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 3973,
"cdna_end": null,
"cdna_length": 5986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859889.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3571A>G",
"hgvs_p": "p.Ile1191Val",
"transcript": "ENST00000859892.1",
"protein_id": "ENSP00000529951.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3571,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 3881,
"cdna_end": null,
"cdna_length": 5929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859892.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3571A>G",
"hgvs_p": "p.Ile1191Val",
"transcript": "ENST00000971570.1",
"protein_id": "ENSP00000641629.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3571,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 3936,
"cdna_end": null,
"cdna_length": 5949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971570.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3571A>G",
"hgvs_p": "p.Ile1191Val",
"transcript": "ENST00000971574.1",
"protein_id": "ENSP00000641633.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3571,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 4474,
"cdna_end": null,
"cdna_length": 6487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971574.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3571A>G",
"hgvs_p": "p.Ile1191Val",
"transcript": "ENST00000971578.1",
"protein_id": "ENSP00000641637.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3571,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 4179,
"cdna_end": null,
"cdna_length": 4894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971578.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3511A>G",
"hgvs_p": "p.Ile1171Val",
"transcript": "ENST00000971571.1",
"protein_id": "ENSP00000641630.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1372,
"cds_start": 3511,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 3740,
"cdna_end": null,
"cdna_length": 5753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971571.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.3343A>G",
"hgvs_p": "p.Ile1115Val",
"transcript": "ENST00000361654.8",
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"splice_prediction_selected": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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"effects": [
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}