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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: 11-123577563-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=123577563&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GRAMD1B",
"hgnc_id": 29214,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Gly217Ser",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001387024.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.0685,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08890298008918762,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 877,
"aa_ref": "G",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8330,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 2634,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001387025.1",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Gly217Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000635736.2",
"protein_coding": true,
"protein_id": "NP_001373954.1",
"strand": true,
"transcript": "NM_001387025.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 877,
"aa_ref": "G",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8330,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 2634,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000635736.2",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Gly217Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001387025.1",
"protein_coding": true,
"protein_id": "ENSP00000490062.1",
"strand": true,
"transcript": "ENST00000635736.2",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 738,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7723,
"cdna_start": 547,
"cds_end": null,
"cds_length": 2217,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000529750.5",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436500.1",
"strand": true,
"transcript": "ENST00000529750.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 440,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": 573,
"cds_end": null,
"cds_length": 1324,
"cds_start": 208,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000534764.1",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434214.1",
"strand": true,
"transcript": "ENST00000534764.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 901,
"aa_ref": "G",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8402,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 2706,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001387024.1",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Gly217Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373953.1",
"strand": true,
"transcript": "NM_001387024.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 887,
"aa_ref": "G",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 1023,
"cds_end": null,
"cds_length": 2664,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000943465.1",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Gly217Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613524.1",
"strand": true,
"transcript": "ENST00000943465.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 885,
"aa_ref": "G",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3311,
"cdna_start": 843,
"cds_end": null,
"cds_length": 2658,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000943464.1",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Gly217Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613523.1",
"strand": true,
"transcript": "ENST00000943464.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 877,
"aa_ref": "G",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8806,
"cdna_start": 1649,
"cds_end": null,
"cds_length": 2634,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000943461.1",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Gly217Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613520.1",
"strand": true,
"transcript": "ENST00000943461.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 877,
"aa_ref": "G",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3989,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 2634,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943462.1",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Gly217Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613521.1",
"strand": true,
"transcript": "ENST00000943462.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 877,
"aa_ref": "G",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3336,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 2634,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943463.1",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Gly217Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613522.1",
"strand": true,
"transcript": "ENST00000943463.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 876,
"aa_ref": "G",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8327,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 2631,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001387026.1",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Gly216Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373955.1",
"strand": true,
"transcript": "NM_001387026.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 833,
"aa_ref": "G",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8136,
"cdna_start": 979,
"cds_end": null,
"cds_length": 2502,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001367421.2",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Gly173Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354350.1",
"strand": true,
"transcript": "NM_001367421.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 789,
"aa_ref": "G",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7894,
"cdna_start": 653,
"cds_end": null,
"cds_length": 2370,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001367420.2",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Gly101Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354349.1",
"strand": true,
"transcript": "NM_001367420.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 767,
"aa_ref": "G",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2665,
"cdna_start": 504,
"cds_end": null,
"cds_length": 2304,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000638086.1",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.307G>A",
"hgvs_p": "p.Gly103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490920.1",
"strand": true,
"transcript": "ENST00000638086.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 765,
"aa_ref": "G",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7822,
"cdna_start": 653,
"cds_end": null,
"cds_length": 2298,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001367419.2",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Gly101Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354348.1",
"strand": true,
"transcript": "NM_001367419.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 762,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7984,
"cdna_start": 743,
"cds_end": null,
"cds_length": 2289,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001387028.1",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373957.1",
"strand": true,
"transcript": "NM_001387028.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 761,
"aa_ref": "G",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7810,
"cdna_start": 653,
"cds_end": null,
"cds_length": 2286,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001367418.2",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Gly101Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354347.1",
"strand": true,
"transcript": "NM_001367418.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 745,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7933,
"cdna_start": 743,
"cds_end": null,
"cds_length": 2238,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001286563.3",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273492.1",
"strand": true,
"transcript": "NM_001286563.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 745,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2805,
"cdna_start": 733,
"cds_end": null,
"cds_length": 2238,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000456860.6",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402457.2",
"strand": true,
"transcript": "ENST00000456860.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 738,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7912,
"cdna_start": 743,
"cds_end": null,
"cds_length": 2217,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_020716.4",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065767.1",
"strand": true,
"transcript": "NM_020716.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 734,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7900,
"cdna_start": 743,
"cds_end": null,
"cds_length": 2205,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001387029.1",
"gene_hgnc_id": 29214,
"gene_symbol": "GRAMD1B",
"hgvs_c": "c.220G>A",
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