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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: 19-5923891-GAC-AAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5923891&ref=GAC&alt=AAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RANBP3",
"hgnc_id": 9850,
"hgvs_c": "c.1018_1020delGTCinsATT",
"hgvs_p": "p.Val340Ile",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_007322.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AAT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 567,
"aa_ref": "V",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1018,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_007322.3",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.1018_1020delGTCinsATT",
"hgvs_p": "p.Val340Ile",
"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": "I",
"aa_end": null,
"aa_length": 567,
"aa_ref": "V",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1018,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000340578.10",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.1018_1020delGTCinsATT",
"hgvs_p": "p.Val340Ile",
"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": "I",
"aa_end": null,
"aa_length": 562,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3186,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1003,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439268.6",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.1003_1005delGTCinsATT",
"hgvs_p": "p.Val335Ile",
"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": "I",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1762,
"cdna_start": 820,
"cds_end": null,
"cds_length": 1500,
"cds_start": 814,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000034275.12",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.814_816delGTCinsATT",
"hgvs_p": "p.Val272Ile",
"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": "I",
"aa_end": null,
"aa_length": 494,
"aa_ref": "V",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": 812,
"cds_end": null,
"cds_length": 1485,
"cds_start": 799,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000591092.5",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.799_801delGTCinsATT",
"hgvs_p": "p.Val267Ile",
"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": 5,
"exon_rank_end": null,
"feature": "ENST00000587411.5",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "n.2048_2050delGTCinsATT",
"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": 12,
"exon_rank_end": null,
"feature": "ENST00000592771.5",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "n.*729_*731delGTCinsATT",
"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": 12,
"exon_rank_end": null,
"feature": "ENST00000592771.5",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "n.*729_*731delGTCinsATT",
"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": "I",
"aa_end": null,
"aa_length": 562,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3218,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1003,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003624.3",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.1003_1005delGTCinsATT",
"hgvs_p": "p.Val335Ile",
"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": "I",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3029,
"cdna_start": 874,
"cds_end": null,
"cds_length": 1500,
"cds_start": 814,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_007320.3",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.814_816delGTCinsATT",
"hgvs_p": "p.Val272Ile",
"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": "I",
"aa_end": null,
"aa_length": 498,
"aa_ref": "V",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": 834,
"cds_end": null,
"cds_length": 1497,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852125.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.811_813delGTCinsATT",
"hgvs_p": "p.Val271Ile",
"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": "I",
"aa_end": null,
"aa_length": 497,
"aa_ref": "V",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 874,
"cds_end": null,
"cds_length": 1494,
"cds_start": 814,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852119.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.814_816delGTCinsATT",
"hgvs_p": "p.Val272Ile",
"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": "I",
"aa_end": null,
"aa_length": 494,
"aa_ref": "V",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3014,
"cdna_start": 859,
"cds_end": null,
"cds_length": 1485,
"cds_start": 799,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001300865.2",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.799_801delGTCinsATT",
"hgvs_p": "p.Val267Ile",
"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": "I",
"aa_end": null,
"aa_length": 492,
"aa_ref": "V",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": 812,
"cds_end": null,
"cds_length": 1479,
"cds_start": 799,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852122.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.799_801delGTCinsATT",
"hgvs_p": "p.Val267Ile",
"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": "I",
"aa_end": null,
"aa_length": 477,
"aa_ref": "V",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1778,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1434,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852124.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.748_750delGTCinsATT",
"hgvs_p": "p.Val250Ile",
"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": "I",
"aa_end": null,
"aa_length": 472,
"aa_ref": "V",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1419,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852126.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.733_735delGTCinsATT",
"hgvs_p": "p.Val245Ile",
"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": "I",
"aa_end": null,
"aa_length": 463,
"aa_ref": "V",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2921,
"cdna_start": 766,
"cds_end": null,
"cds_length": 1392,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852118.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.706_708delGTCinsATT",
"hgvs_p": "p.Val236Ile",
"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": "I",
"aa_end": null,
"aa_length": 459,
"aa_ref": "V",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2878,
"cdna_start": 727,
"cds_end": null,
"cds_length": 1380,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852120.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.694_696delGTCinsATT",
"hgvs_p": "p.Val232Ile",
"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": "I",
"aa_end": null,
"aa_length": 454,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 689,
"cds_end": null,
"cds_length": 1365,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852127.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.679_681delGTCinsATT",
"hgvs_p": "p.Val227Ile",
"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": "I",
"aa_end": null,
"aa_length": 434,
"aa_ref": "V",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2838,
"cdna_start": 683,
"cds_end": null,
"cds_length": 1305,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852117.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.619_621delGTCinsATT",
"hgvs_p": "p.Val207Ile",
"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": "I",
"aa_end": null,
"aa_length": 362,
"aa_ref": "V",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2584,
"cdna_start": 429,
"cds_end": null,
"cds_length": 1089,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852121.1",
"gene_hgnc_id": 9850,
"gene_symbol": "RANBP3",
"hgvs_c": "c.403_405delGTCinsATT",
"hgvs_p": "p.Val135Ile",
"intron_rank": null,
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