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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: 7-74338708-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=74338708&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CLIP2",
"hgnc_id": 2586,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 0,
"transcript": "NM_003388.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong,BS2",
"acmg_score": 0,
"allele_count_reference_population": 20,
"alphamissense_prediction": null,
"alphamissense_score": 0.8428,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.36,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9526095390319824,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1046,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5623,
"cdna_start": 777,
"cds_end": null,
"cds_length": 3141,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_003388.5",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000223398.11",
"protein_coding": true,
"protein_id": "NP_003379.4",
"strand": true,
"transcript": "NM_003388.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1046,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5623,
"cdna_start": 777,
"cds_end": null,
"cds_length": 3141,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000223398.11",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003388.5",
"protein_coding": true,
"protein_id": "ENSP00000223398.6",
"strand": true,
"transcript": "ENST00000223398.11",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5445,
"cdna_start": 709,
"cds_end": null,
"cds_length": 3036,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000361545.9",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355151.5",
"strand": true,
"transcript": "ENST00000361545.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1080,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5695,
"cdna_start": 747,
"cds_end": null,
"cds_length": 3243,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000884300.1",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554359.1",
"strand": true,
"transcript": "ENST00000884300.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1065,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5649,
"cdna_start": 746,
"cds_end": null,
"cds_length": 3198,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000941416.1",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611475.1",
"strand": true,
"transcript": "ENST00000941416.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1061,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5601,
"cdna_start": 713,
"cds_end": null,
"cds_length": 3186,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000884301.1",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554360.1",
"strand": true,
"transcript": "ENST00000884301.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1048,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5606,
"cdna_start": 746,
"cds_end": null,
"cds_length": 3147,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930626.1",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600685.1",
"strand": true,
"transcript": "ENST00000930626.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1026,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5532,
"cdna_start": 747,
"cds_end": null,
"cds_length": 3081,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000941417.1",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611476.1",
"strand": true,
"transcript": "ENST00000941417.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5527,
"cdna_start": 746,
"cds_end": null,
"cds_length": 3075,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000941415.1",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611474.1",
"strand": true,
"transcript": "ENST00000941415.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5495,
"cdna_start": 747,
"cds_end": null,
"cds_length": 3045,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930628.1",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600687.1",
"strand": true,
"transcript": "ENST00000930628.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5480,
"cdna_start": 736,
"cds_end": null,
"cds_length": 3042,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000941421.1",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611480.1",
"strand": true,
"transcript": "ENST00000941421.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5518,
"cdna_start": 777,
"cds_end": null,
"cds_length": 3036,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_032421.3",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_115797.2",
"strand": true,
"transcript": "NM_032421.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5578,
"cdna_start": 829,
"cds_end": null,
"cds_length": 3036,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000884298.1",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554357.1",
"strand": true,
"transcript": "ENST00000884298.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5601,
"cdna_start": 860,
"cds_end": null,
"cds_length": 3036,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000884299.1",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554358.1",
"strand": true,
"transcript": "ENST00000884299.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5550,
"cdna_start": 809,
"cds_end": null,
"cds_length": 3036,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000930627.1",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600686.1",
"strand": true,
"transcript": "ENST00000930627.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5586,
"cdna_start": 845,
"cds_end": null,
"cds_length": 3036,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000941414.1",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611473.1",
"strand": true,
"transcript": "ENST00000941414.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5507,
"cdna_start": 768,
"cds_end": null,
"cds_length": 3036,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000941423.1",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611482.1",
"strand": true,
"transcript": "ENST00000941423.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5481,
"cdna_start": 746,
"cds_end": null,
"cds_length": 3033,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930629.1",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600688.1",
"strand": true,
"transcript": "ENST00000930629.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 988,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5413,
"cdna_start": 747,
"cds_end": null,
"cds_length": 2967,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000941419.1",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611478.1",
"strand": true,
"transcript": "ENST00000941419.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 984,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5366,
"cdna_start": 710,
"cds_end": null,
"cds_length": 2955,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930630.1",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600689.1",
"strand": true,
"transcript": "ENST00000930630.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5347,
"cdna_start": 720,
"cds_end": null,
"cds_length": 2928,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000941422.1",
"gene_hgnc_id": 2586,
"gene_symbol": "CLIP2",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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}