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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: 19-5925683-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5925683&ref=C&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": "RANBP3",
"hgnc_id": 9850,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_007322.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 98,
"alphamissense_prediction": null,
"alphamissense_score": 0.0633,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"chr": "19",
"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": 0.01586821675300598,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 567,
"aa_ref": "A",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 926,
"cds_end": null,
"cds_length": 1704,
"cds_start": 868,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_007322.3",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340578.10",
"protein_coding": true,
"protein_id": "NP_015561.1",
"strand": false,
"transcript": "NM_007322.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 567,
"aa_ref": "A",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 926,
"cds_end": null,
"cds_length": 1704,
"cds_start": 868,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000340578.10",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007322.3",
"protein_coding": true,
"protein_id": "ENSP00000341483.5",
"strand": false,
"transcript": "ENST00000340578.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 562,
"aa_ref": "A",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3186,
"cdna_start": 879,
"cds_end": null,
"cds_length": 1689,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000439268.6",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404837.1",
"strand": false,
"transcript": "ENST00000439268.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 499,
"aa_ref": "A",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1762,
"cdna_start": 668,
"cds_end": null,
"cds_length": 1500,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000034275.12",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Ala222Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000034275.7",
"strand": false,
"transcript": "ENST00000034275.12",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 494,
"aa_ref": "A",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": 660,
"cds_end": null,
"cds_length": 1485,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000591092.5",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Ala217Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465085.1",
"strand": false,
"transcript": "ENST00000591092.5",
"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": 2669,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000587411.5",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "n.1170G>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": "ENST00000587411.5",
"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": 1937,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000592771.5",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "n.*579G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466879.1",
"strand": false,
"transcript": "ENST00000592771.5",
"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": 1937,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000592771.5",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "n.*579G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466879.1",
"strand": false,
"transcript": "ENST00000592771.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 562,
"aa_ref": "A",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3218,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1689,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_003624.3",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003615.2",
"strand": false,
"transcript": "NM_003624.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 499,
"aa_ref": "A",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3029,
"cdna_start": 722,
"cds_end": null,
"cds_length": 1500,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_007320.3",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Ala222Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_015559.2",
"strand": false,
"transcript": "NM_007320.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 498,
"aa_ref": "A",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": 682,
"cds_end": null,
"cds_length": 1497,
"cds_start": 661,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000852125.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Ala221Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522184.1",
"strand": false,
"transcript": "ENST00000852125.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 497,
"aa_ref": "A",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 722,
"cds_end": null,
"cds_length": 1494,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000852119.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Ala222Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522178.1",
"strand": false,
"transcript": "ENST00000852119.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 494,
"aa_ref": "A",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3014,
"cdna_start": 707,
"cds_end": null,
"cds_length": 1485,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001300865.2",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Ala217Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287794.1",
"strand": false,
"transcript": "NM_001300865.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 492,
"aa_ref": "A",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": 660,
"cds_end": null,
"cds_length": 1479,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000852122.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Ala217Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522181.1",
"strand": false,
"transcript": "ENST00000852122.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 477,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1778,
"cdna_start": 654,
"cds_end": null,
"cds_length": 1434,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000852124.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Ala200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522183.1",
"strand": false,
"transcript": "ENST00000852124.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 472,
"aa_ref": "A",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": 600,
"cds_end": null,
"cds_length": 1419,
"cds_start": 583,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000852126.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.583G>A",
"hgvs_p": "p.Ala195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522185.1",
"strand": false,
"transcript": "ENST00000852126.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 463,
"aa_ref": "A",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2921,
"cdna_start": 614,
"cds_end": null,
"cds_length": 1392,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000852118.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Ala186Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522177.1",
"strand": false,
"transcript": "ENST00000852118.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 459,
"aa_ref": "A",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2878,
"cdna_start": 575,
"cds_end": null,
"cds_length": 1380,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000852120.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Ala182Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522179.1",
"strand": false,
"transcript": "ENST00000852120.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 454,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 537,
"cds_end": null,
"cds_length": 1365,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000852127.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522186.1",
"strand": false,
"transcript": "ENST00000852127.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 434,
"aa_ref": "A",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2838,
"cdna_start": 531,
"cds_end": null,
"cds_length": 1305,
"cds_start": 469,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000852117.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522176.1",
"strand": false,
"transcript": "ENST00000852117.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 362,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2584,
"cdna_start": 277,
"cds_end": null,
"cds_length": 1089,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000852121.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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