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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: 3-48695257-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48695257&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IP6K2",
"hgnc_id": 17313,
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_016291.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.0916,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "3",
"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": 0.044527143239974976,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 426,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1746,
"cdna_start": 230,
"cds_end": null,
"cds_length": 1281,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_016291.4",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000328631.10",
"protein_coding": true,
"protein_id": "NP_057375.2",
"strand": false,
"transcript": "NM_016291.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 426,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1746,
"cdna_start": 230,
"cds_end": null,
"cds_length": 1281,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000328631.10",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016291.4",
"protein_coding": true,
"protein_id": "ENSP00000331103.5",
"strand": false,
"transcript": "ENST00000328631.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 185,
"aa_ref": "P",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2174,
"cdna_start": 438,
"cds_end": null,
"cds_length": 558,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000431721.6",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414139.2",
"strand": false,
"transcript": "ENST00000431721.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 97,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1185,
"cdna_start": 225,
"cds_end": null,
"cds_length": 294,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000340879.8",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341925.4",
"strand": false,
"transcript": "ENST00000340879.8",
"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": 1260,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000416707.1",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "n.35C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000387759.1",
"strand": false,
"transcript": "ENST00000416707.1",
"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": 1077,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000479914.5",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "n.332C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000479914.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 449,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": 227,
"cds_end": null,
"cds_length": 1350,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000921848.1",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591907.1",
"strand": false,
"transcript": "ENST00000921848.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 449,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2016,
"cdna_start": 434,
"cds_end": null,
"cds_length": 1350,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921850.1",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591909.1",
"strand": false,
"transcript": "ENST00000921850.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 449,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1987,
"cdna_start": 402,
"cds_end": null,
"cds_length": 1350,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921857.1",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591916.1",
"strand": false,
"transcript": "ENST00000921857.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 449,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1836,
"cdna_start": 253,
"cds_end": null,
"cds_length": 1350,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000946886.1",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616945.1",
"strand": false,
"transcript": "ENST00000946886.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 447,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
"cdna_start": 246,
"cds_end": null,
"cds_length": 1344,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000904745.1",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574804.1",
"strand": false,
"transcript": "ENST00000904745.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 440,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1770,
"cdna_start": 213,
"cds_end": null,
"cds_length": 1323,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000946882.1",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616941.1",
"strand": false,
"transcript": "ENST00000946882.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 426,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1743,
"cdna_start": 227,
"cds_end": null,
"cds_length": 1281,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001005909.3",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005909.1",
"strand": false,
"transcript": "NM_001005909.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 426,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1889,
"cdna_start": 373,
"cds_end": null,
"cds_length": 1281,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000904743.1",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574802.1",
"strand": false,
"transcript": "ENST00000904743.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 426,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": 389,
"cds_end": null,
"cds_length": 1281,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000904744.1",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574803.1",
"strand": false,
"transcript": "ENST00000904744.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 426,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 443,
"cds_end": null,
"cds_length": 1281,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000904746.1",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574805.1",
"strand": false,
"transcript": "ENST00000904746.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 426,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 363,
"cds_end": null,
"cds_length": 1281,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000904748.1",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574807.1",
"strand": false,
"transcript": "ENST00000904748.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 426,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 542,
"cds_end": null,
"cds_length": 1281,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000921847.1",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591906.1",
"strand": false,
"transcript": "ENST00000921847.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 426,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1735,
"cdna_start": 219,
"cds_end": null,
"cds_length": 1281,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000921849.1",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591908.1",
"strand": false,
"transcript": "ENST00000921849.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 426,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 342,
"cds_end": null,
"cds_length": 1281,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921851.1",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591910.1",
"strand": false,
"transcript": "ENST00000921851.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 426,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 301,
"cds_end": null,
"cds_length": 1281,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921852.1",
"gene_hgnc_id": 17313,
"gene_symbol": "IP6K2",
"hgvs_c": "c.35C>A",
"hgvs_p": "p.Pro12His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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