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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: 2-46512073-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=46512073&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATP6V1E2",
"hgnc_id": 18125,
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001318063.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LINC02583",
"hgnc_id": 53812,
"hgvs_c": "n.174-15833C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000843637.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 49,
"alphamissense_prediction": null,
"alphamissense_score": 0.1709,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "2",
"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": 0.040152788162231445,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1599,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001318063.2",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000522587.6",
"protein_coding": true,
"protein_id": "NP_001304992.1",
"strand": false,
"transcript": "NM_001318063.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1599,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000522587.6",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001318063.2",
"protein_coding": true,
"protein_id": "ENSP00000428141.1",
"strand": false,
"transcript": "ENST00000522587.6",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1979,
"cdna_start": 1753,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000306448.4",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000304891.4",
"strand": false,
"transcript": "ENST00000306448.4",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2541,
"cdna_start": 2315,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001371281.1",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358210.1",
"strand": false,
"transcript": "NM_001371281.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2469,
"cdna_start": 2243,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001371282.1",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358211.1",
"strand": false,
"transcript": "NM_001371282.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": 2136,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001371283.1",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358212.1",
"strand": false,
"transcript": "NM_001371283.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1754,
"cdna_start": 1528,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890126.1",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560185.1",
"strand": false,
"transcript": "ENST00000890126.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3206,
"cdna_start": 2974,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890127.1",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560186.1",
"strand": false,
"transcript": "ENST00000890127.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 2217,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890128.1",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560187.1",
"strand": false,
"transcript": "ENST00000890128.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 2263,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890129.1",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560188.1",
"strand": false,
"transcript": "ENST00000890129.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 2123,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000890130.1",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560189.1",
"strand": false,
"transcript": "ENST00000890130.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": 2372,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890131.1",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560190.1",
"strand": false,
"transcript": "ENST00000890131.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 1705,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890132.1",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560191.1",
"strand": false,
"transcript": "ENST00000890132.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1528,
"cdna_start": 1302,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890133.1",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560192.1",
"strand": false,
"transcript": "ENST00000890133.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3058,
"cdna_start": 2832,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000923418.1",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593477.1",
"strand": false,
"transcript": "ENST00000923418.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 2133,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000923419.1",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593478.1",
"strand": false,
"transcript": "ENST00000923419.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3114,
"cdna_start": 2872,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000923420.1",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593479.1",
"strand": false,
"transcript": "ENST00000923420.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1365,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000923421.1",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593480.1",
"strand": false,
"transcript": "ENST00000923421.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2410,
"cdna_start": 2187,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000965787.1",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635846.1",
"strand": false,
"transcript": "ENST00000965787.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2558,
"cdna_start": 2335,
"cds_end": null,
"cds_length": 681,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000965788.1",
"gene_hgnc_id": 18125,
"gene_symbol": "ATP6V1E2",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Met213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635847.1",
"strand": false,
"transcript": "ENST00000965788.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
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