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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: 1-115286119-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=115286119&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NGF",
"hgnc_id": 7808,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_002506.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NGF-AS1",
"hgnc_id": 53922,
"hgvs_c": "n.207+2879T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000425449.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1",
"acmg_score": 2,
"allele_count_reference_population": 9,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.8288,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7038459181785583,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1061,
"cdna_start": 859,
"cds_end": null,
"cds_length": 726,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_002506.3",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369512.3",
"protein_coding": true,
"protein_id": "NP_002497.2",
"strand": false,
"transcript": "NM_002506.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1061,
"cdna_start": 859,
"cds_end": null,
"cds_length": 726,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000369512.3",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002506.3",
"protein_coding": true,
"protein_id": "ENSP00000358525.2",
"strand": false,
"transcript": "ENST00000369512.3",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 937,
"cdna_start": 735,
"cds_end": null,
"cds_length": 726,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001437545.1",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424474.1",
"strand": false,
"transcript": "NM_001437545.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 941,
"cdna_start": 739,
"cds_end": null,
"cds_length": 726,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000675637.2",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502831.1",
"strand": false,
"transcript": "ENST00000675637.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1168,
"cdna_start": 953,
"cds_end": null,
"cds_length": 726,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000676038.2",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502380.1",
"strand": false,
"transcript": "ENST00000676038.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1178,
"cdna_start": 976,
"cds_end": null,
"cds_length": 726,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000679806.1",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506492.1",
"strand": false,
"transcript": "ENST00000679806.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1531,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 726,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000680116.1",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505694.1",
"strand": false,
"transcript": "ENST00000680116.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2997,
"cdna_start": 2903,
"cds_end": null,
"cds_length": 726,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000680540.1",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506569.1",
"strand": false,
"transcript": "ENST00000680540.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1002,
"cdna_start": 908,
"cds_end": null,
"cds_length": 726,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000680752.1",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505558.1",
"strand": false,
"transcript": "ENST00000680752.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1175,
"cdna_start": 974,
"cds_end": null,
"cds_length": 726,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000871201.1",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541260.1",
"strand": false,
"transcript": "ENST00000871201.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1288,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 726,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000871202.1",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541261.1",
"strand": false,
"transcript": "ENST00000871202.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1306,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 726,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000871203.1",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541262.1",
"strand": false,
"transcript": "ENST00000871203.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": 2381,
"cds_end": null,
"cds_length": 726,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000871204.1",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541263.1",
"strand": false,
"transcript": "ENST00000871204.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1031,
"cdna_start": 831,
"cds_end": null,
"cds_length": 726,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000871205.1",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541264.1",
"strand": false,
"transcript": "ENST00000871205.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1092,
"cdna_start": 890,
"cds_end": null,
"cds_length": 726,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929056.1",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599115.1",
"strand": false,
"transcript": "ENST00000929056.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1276,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 726,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000970250.1",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640309.1",
"strand": false,
"transcript": "ENST00000970250.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1787,
"cdna_start": 1590,
"cds_end": null,
"cds_length": 726,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000970251.1",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640310.1",
"strand": false,
"transcript": "ENST00000970251.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 84,
"aa_ref": "D",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 998,
"cdna_start": 796,
"cds_end": null,
"cds_length": 255,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000681124.1",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Asp69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506364.1",
"strand": false,
"transcript": "ENST00000681124.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 296,
"aa_ref": "D",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4077,
"cdna_start": 3875,
"cds_end": null,
"cds_length": 891,
"cds_start": 842,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011541518.3",
"gene_hgnc_id": 7808,
"gene_symbol": "NGF",
"hgvs_c": "c.842A>G",
"hgvs_p": "p.Asp281Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539820.1",
"strand": false,
"transcript": "XM_011541518.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2610,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000425449.1",
"gene_hgnc_id": 53922,
"gene_symbol": "NGF-AS1",
"hgvs_c": "n.207+2879T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000425449.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1768,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
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