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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: 20-58991042-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=58991042&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NELFCD",
"hgnc_id": 15934,
"hgvs_c": "c.921G>A",
"hgvs_p": "p.Met307Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_198976.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "CTSZ",
"hgnc_id": 2547,
"hgvs_c": "c.*331C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000680879.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.8471,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.15,
"chr": "20",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5726171731948853,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 581,
"aa_ref": "M",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2237,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1746,
"cds_start": 921,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_198976.4",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.921G>A",
"hgvs_p": "p.Met307Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000652272.2",
"protein_coding": true,
"protein_id": "NP_945327.3",
"strand": true,
"transcript": "NM_198976.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 581,
"aa_ref": "M",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2237,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1746,
"cds_start": 921,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000652272.2",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.921G>A",
"hgvs_p": "p.Met307Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198976.4",
"protein_coding": true,
"protein_id": "ENSP00000499018.1",
"strand": true,
"transcript": "ENST00000652272.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 599,
"aa_ref": "M",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2303,
"cdna_start": 1023,
"cds_end": null,
"cds_length": 1800,
"cds_start": 975,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000602795.6",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.975G>A",
"hgvs_p": "p.Met325Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473290.1",
"strand": true,
"transcript": "ENST00000602795.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2137,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000460601.5",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "n.954G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436783.2",
"strand": true,
"transcript": "ENST00000460601.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2070,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000477741.5",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "n.877G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000477741.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 580,
"aa_ref": "M",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 981,
"cds_end": null,
"cds_length": 1743,
"cds_start": 918,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905231.1",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.918G>A",
"hgvs_p": "p.Met306Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575290.1",
"strand": true,
"transcript": "ENST00000905231.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 580,
"aa_ref": "M",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2206,
"cdna_start": 952,
"cds_end": null,
"cds_length": 1743,
"cds_start": 918,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905239.1",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.918G>A",
"hgvs_p": "p.Met306Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575298.1",
"strand": true,
"transcript": "ENST00000905239.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 579,
"aa_ref": "M",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1740,
"cds_start": 921,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000958299.1",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.921G>A",
"hgvs_p": "p.Met307Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628358.1",
"strand": true,
"transcript": "ENST00000958299.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 577,
"aa_ref": "M",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2206,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1734,
"cds_start": 909,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905237.1",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.909G>A",
"hgvs_p": "p.Met303Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575296.1",
"strand": true,
"transcript": "ENST00000905237.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 570,
"aa_ref": "M",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": 956,
"cds_end": null,
"cds_length": 1713,
"cds_start": 921,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905238.1",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.921G>A",
"hgvs_p": "p.Met307Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575297.1",
"strand": true,
"transcript": "ENST00000905238.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 569,
"aa_ref": "M",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1710,
"cds_start": 918,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905233.1",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.918G>A",
"hgvs_p": "p.Met306Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575292.1",
"strand": true,
"transcript": "ENST00000905233.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 569,
"aa_ref": "M",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 956,
"cds_end": null,
"cds_length": 1710,
"cds_start": 921,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905236.1",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.921G>A",
"hgvs_p": "p.Met307Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575295.1",
"strand": true,
"transcript": "ENST00000905236.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 565,
"aa_ref": "M",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1698,
"cds_start": 921,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905232.1",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.921G>A",
"hgvs_p": "p.Met307Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575291.1",
"strand": true,
"transcript": "ENST00000905232.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 553,
"aa_ref": "M",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1662,
"cds_start": 921,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905230.1",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.921G>A",
"hgvs_p": "p.Met307Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575289.1",
"strand": true,
"transcript": "ENST00000905230.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 549,
"aa_ref": "M",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2115,
"cdna_start": 952,
"cds_end": null,
"cds_length": 1650,
"cds_start": 921,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000915031.1",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.921G>A",
"hgvs_p": "p.Met307Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585090.1",
"strand": true,
"transcript": "ENST00000915031.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 534,
"aa_ref": "M",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1605,
"cds_start": 921,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000915030.1",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.921G>A",
"hgvs_p": "p.Met307Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585089.1",
"strand": true,
"transcript": "ENST00000915030.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 502,
"aa_ref": "M",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 968,
"cds_end": null,
"cds_length": 1509,
"cds_start": 921,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000958300.1",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.921G>A",
"hgvs_p": "p.Met307Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628359.1",
"strand": true,
"transcript": "ENST00000958300.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "M",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1623,
"cdna_start": 344,
"cds_end": null,
"cds_length": 1134,
"cds_start": 309,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905234.1",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.309G>A",
"hgvs_p": "p.Met103Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575293.1",
"strand": true,
"transcript": "ENST00000905234.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 298,
"aa_ref": "M",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1371,
"cdna_start": 346,
"cds_end": null,
"cds_length": 897,
"cds_start": 309,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905235.1",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.309G>A",
"hgvs_p": "p.Met103Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575294.1",
"strand": true,
"transcript": "ENST00000905235.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 526,
"aa_ref": "M",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1673,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1581,
"cds_start": 975,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047440188.1",
"gene_hgnc_id": 15934,
"gene_symbol": "NELFCD",
"hgvs_c": "c.975G>A",
"hgvs_p": "p.Met325Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296144.1",
"strand": true,
"transcript": "XM_047440188.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 314,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
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}