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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: 12-122316808-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122316808&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CLIP1",
"hgnc_id": 10461,
"hgvs_c": "c.5544C>T",
"hgvs_p": "p.Asn1848Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001389291.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "N",
"aa_start": 1138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5978,
"cdna_start": 3669,
"cds_end": null,
"cds_length": 4317,
"cds_start": 3414,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001247997.2",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3414C>T",
"hgvs_p": "p.Asn1138Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000620786.5",
"protein_coding": true,
"protein_id": "NP_001234926.1",
"strand": false,
"transcript": "NM_001247997.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "N",
"aa_start": 1138,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5978,
"cdna_start": 3669,
"cds_end": null,
"cds_length": 4317,
"cds_start": 3414,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000620786.5",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3414C>T",
"hgvs_p": "p.Asn1138Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001247997.2",
"protein_coding": true,
"protein_id": "ENSP00000479322.1",
"strand": false,
"transcript": "ENST00000620786.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "N",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5880,
"cdna_start": 3536,
"cds_end": null,
"cds_length": 4284,
"cds_start": 3381,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000358808.6",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3381C>T",
"hgvs_p": "p.Asn1127Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351665.2",
"strand": false,
"transcript": "ENST00000358808.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "N",
"aa_start": 1092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5229,
"cdna_start": 3494,
"cds_end": null,
"cds_length": 4179,
"cds_start": 3276,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000537178.5",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3276C>T",
"hgvs_p": "p.Asn1092Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445531.1",
"strand": false,
"transcript": "ENST00000537178.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2148,
"aa_ref": "N",
"aa_start": 1848,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8108,
"cdna_start": 5799,
"cds_end": null,
"cds_length": 6447,
"cds_start": 5544,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001389291.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.5544C>T",
"hgvs_p": "p.Asn1848Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376220.1",
"strand": false,
"transcript": "NM_001389291.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "N",
"aa_start": 1138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6197,
"cdna_start": 3853,
"cds_end": null,
"cds_length": 4317,
"cds_start": 3414,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000971572.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3414C>T",
"hgvs_p": "p.Asn1138Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641631.1",
"strand": false,
"transcript": "ENST00000971572.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "N",
"aa_start": 1138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6670,
"cdna_start": 4326,
"cds_end": null,
"cds_length": 4317,
"cds_start": 3414,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000971573.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3414C>T",
"hgvs_p": "p.Asn1138Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641632.1",
"strand": false,
"transcript": "ENST00000971573.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "N",
"aa_start": 1138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4971,
"cdna_start": 3905,
"cds_end": null,
"cds_length": 4317,
"cds_start": 3414,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000971577.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3414C>T",
"hgvs_p": "p.Asn1138Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641636.1",
"strand": false,
"transcript": "ENST00000971577.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "N",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5945,
"cdna_start": 3636,
"cds_end": null,
"cds_length": 4284,
"cds_start": 3381,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_002956.3",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3381C>T",
"hgvs_p": "p.Asn1127Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002947.1",
"strand": false,
"transcript": "NM_002956.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "N",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5833,
"cdna_start": 3489,
"cds_end": null,
"cds_length": 4284,
"cds_start": 3381,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000302528.11",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3381C>T",
"hgvs_p": "p.Asn1127Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000303585.7",
"strand": false,
"transcript": "ENST00000302528.11",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "N",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6018,
"cdna_start": 3716,
"cds_end": null,
"cds_length": 4284,
"cds_start": 3381,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000859891.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3381C>T",
"hgvs_p": "p.Asn1127Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529950.1",
"strand": false,
"transcript": "ENST00000859891.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "N",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4938,
"cdna_start": 3872,
"cds_end": null,
"cds_length": 4284,
"cds_start": 3381,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000971576.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3381C>T",
"hgvs_p": "p.Asn1127Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641635.1",
"strand": false,
"transcript": "ENST00000971576.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1403,
"aa_ref": "N",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5912,
"cdna_start": 3568,
"cds_end": null,
"cds_length": 4212,
"cds_start": 3309,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000859888.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3309C>T",
"hgvs_p": "p.Asn1103Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529947.1",
"strand": false,
"transcript": "ENST00000859888.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1403,
"aa_ref": "N",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6152,
"cdna_start": 3810,
"cds_end": null,
"cds_length": 4212,
"cds_start": 3309,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000971569.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3309C>T",
"hgvs_p": "p.Asn1103Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641628.1",
"strand": false,
"transcript": "ENST00000971569.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "N",
"aa_start": 1092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5840,
"cdna_start": 3531,
"cds_end": null,
"cds_length": 4179,
"cds_start": 3276,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_198240.3",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3276C>T",
"hgvs_p": "p.Asn1092Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_937883.1",
"strand": false,
"transcript": "NM_198240.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "N",
"aa_start": 1092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5986,
"cdna_start": 3678,
"cds_end": null,
"cds_length": 4179,
"cds_start": 3276,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000859889.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3276C>T",
"hgvs_p": "p.Asn1092Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529948.1",
"strand": false,
"transcript": "ENST00000859889.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "N",
"aa_start": 1092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5929,
"cdna_start": 3586,
"cds_end": null,
"cds_length": 4179,
"cds_start": 3276,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000859892.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3276C>T",
"hgvs_p": "p.Asn1092Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529951.1",
"strand": false,
"transcript": "ENST00000859892.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "N",
"aa_start": 1092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5949,
"cdna_start": 3641,
"cds_end": null,
"cds_length": 4179,
"cds_start": 3276,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000971570.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3276C>T",
"hgvs_p": "p.Asn1092Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641629.1",
"strand": false,
"transcript": "ENST00000971570.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "N",
"aa_start": 1092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6487,
"cdna_start": 4179,
"cds_end": null,
"cds_length": 4179,
"cds_start": 3276,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000971574.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3276C>T",
"hgvs_p": "p.Asn1092Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641633.1",
"strand": false,
"transcript": "ENST00000971574.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "N",
"aa_start": 1092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4894,
"cdna_start": 3884,
"cds_end": null,
"cds_length": 4179,
"cds_start": 3276,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000971578.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.3276C>T",
"hgvs_p": "p.Asn1092Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641637.1",
"strand": false,
"transcript": "ENST00000971578.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1372,
"aa_ref": "N",
"aa_start": 1072,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5753,
"cdna_start": 3445,
"cds_end": null,
"cds_length": 4119,
"cds_start": 3216,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
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