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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: 19-44908940-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44908940&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"PP2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "APOE",
"hgnc_id": 613,
"hgvs_c": "c.722C>T",
"hgvs_p": "p.Ser241Phe",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 3,
"score": 2,
"transcript": "NM_001302688.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1993,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3455894887447357,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 317,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1166,
"cdna_start": 713,
"cds_end": null,
"cds_length": 954,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000041.4",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000252486.9",
"protein_coding": true,
"protein_id": "NP_000032.1",
"strand": true,
"transcript": "NM_000041.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 317,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1166,
"cdna_start": 713,
"cds_end": null,
"cds_length": 954,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000252486.9",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000041.4",
"protein_coding": true,
"protein_id": "ENSP00000252486.3",
"strand": true,
"transcript": "ENST00000252486.9",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 218,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 923,
"cdna_start": 909,
"cds_end": null,
"cds_length": 658,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000425718.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410423.1",
"strand": true,
"transcript": "ENST00000425718.1",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 343,
"aa_ref": "S",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": 795,
"cds_end": null,
"cds_length": 1032,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001302688.2",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.722C>T",
"hgvs_p": "p.Ser241Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289617.1",
"strand": true,
"transcript": "NM_001302688.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 335,
"aa_ref": "S",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1219,
"cdna_start": 767,
"cds_end": null,
"cds_length": 1008,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000864831.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.698C>T",
"hgvs_p": "p.Ser233Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534890.1",
"strand": true,
"transcript": "ENST00000864831.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 334,
"aa_ref": "S",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1216,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1005,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000864832.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Ser232Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534891.1",
"strand": true,
"transcript": "ENST00000864832.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 317,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1144,
"cdna_start": 691,
"cds_end": null,
"cds_length": 954,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001302689.2",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289618.1",
"strand": true,
"transcript": "NM_001302689.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 317,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1244,
"cdna_start": 791,
"cds_end": null,
"cds_length": 954,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001302690.2",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289619.1",
"strand": true,
"transcript": "NM_001302690.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 317,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1181,
"cdna_start": 728,
"cds_end": null,
"cds_length": 954,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001302691.2",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289620.1",
"strand": true,
"transcript": "NM_001302691.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 317,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1267,
"cdna_start": 815,
"cds_end": null,
"cds_length": 954,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864817.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534877.1",
"strand": true,
"transcript": "ENST00000864817.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 317,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1198,
"cdna_start": 746,
"cds_end": null,
"cds_length": 954,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864820.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534879.1",
"strand": true,
"transcript": "ENST00000864820.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 317,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1612,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 954,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000864822.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534881.1",
"strand": true,
"transcript": "ENST00000864822.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 317,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1142,
"cdna_start": 691,
"cds_end": null,
"cds_length": 954,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864826.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534885.1",
"strand": true,
"transcript": "ENST00000864826.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 317,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1266,
"cdna_start": 813,
"cds_end": null,
"cds_length": 954,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864828.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534887.1",
"strand": true,
"transcript": "ENST00000864828.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 317,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1147,
"cdna_start": 692,
"cds_end": null,
"cds_length": 954,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864829.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534888.1",
"strand": true,
"transcript": "ENST00000864829.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 317,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1150,
"cdna_start": 698,
"cds_end": null,
"cds_length": 954,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864834.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534893.1",
"strand": true,
"transcript": "ENST00000864834.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 317,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1281,
"cdna_start": 829,
"cds_end": null,
"cds_length": 954,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000864835.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534894.1",
"strand": true,
"transcript": "ENST00000864835.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 317,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1323,
"cdna_start": 868,
"cds_end": null,
"cds_length": 954,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864836.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534895.1",
"strand": true,
"transcript": "ENST00000864836.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 317,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1283,
"cdna_start": 827,
"cds_end": null,
"cds_length": 954,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864837.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534896.1",
"strand": true,
"transcript": "ENST00000864837.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 317,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1183,
"cdna_start": 730,
"cds_end": null,
"cds_length": 954,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864838.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534897.1",
"strand": true,
"transcript": "ENST00000864838.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 317,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1266,
"cdna_start": 812,
"cds_end": null,
"cds_length": 954,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864839.1",
"gene_hgnc_id": 613,
"gene_symbol": "APOE",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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