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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: 2-108736206-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=108736206&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RANBP2",
"hgnc_id": 9848,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Phe",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001415871.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 28,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2129,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Familial acute necrotizing encephalopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5411768555641174,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3224,
"aa_ref": "L",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11708,
"cdna_start": 864,
"cds_end": null,
"cds_length": 9675,
"cds_start": 739,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_006267.5",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000283195.11",
"protein_coding": true,
"protein_id": "NP_006258.3",
"strand": true,
"transcript": "NM_006267.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3224,
"aa_ref": "L",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11708,
"cdna_start": 864,
"cds_end": null,
"cds_length": 9675,
"cds_start": 739,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000283195.11",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006267.5",
"protein_coding": true,
"protein_id": "ENSP00000283195.6",
"strand": true,
"transcript": "ENST00000283195.11",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3250,
"aa_ref": "L",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11786,
"cdna_start": 864,
"cds_end": null,
"cds_length": 9753,
"cds_start": 739,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001415871.1",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001402800.1",
"strand": true,
"transcript": "NM_001415871.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3232,
"aa_ref": "L",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11732,
"cdna_start": 864,
"cds_end": null,
"cds_length": 9699,
"cds_start": 739,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001415873.1",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001402802.1",
"strand": true,
"transcript": "NM_001415873.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3223,
"aa_ref": "L",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11705,
"cdna_start": 861,
"cds_end": null,
"cds_length": 9672,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001415872.1",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Leu246Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001402801.1",
"strand": true,
"transcript": "NM_001415872.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 3223,
"aa_ref": "L",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11737,
"cdna_start": 906,
"cds_end": null,
"cds_length": 9672,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000917983.1",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Leu246Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588042.1",
"strand": true,
"transcript": "ENST00000917983.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1501,
"aa_ref": "L",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4801,
"cdna_start": 833,
"cds_end": null,
"cds_length": 4506,
"cds_start": 739,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960086.1",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630145.1",
"strand": true,
"transcript": "ENST00000960086.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1475,
"aa_ref": "L",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6457,
"cdna_start": 859,
"cds_end": null,
"cds_length": 4428,
"cds_start": 739,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000697737.1",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513426.1",
"strand": true,
"transcript": "ENST00000697737.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1473,
"aa_ref": "L",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5385,
"cdna_start": 816,
"cds_end": null,
"cds_length": 4422,
"cds_start": 739,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960085.1",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630144.1",
"strand": true,
"transcript": "ENST00000960085.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1449,
"aa_ref": "L",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6371,
"cdna_start": 773,
"cds_end": null,
"cds_length": 4350,
"cds_start": 661,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000697740.1",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.661C>T",
"hgvs_p": "p.Leu221Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513427.1",
"strand": true,
"transcript": "ENST00000697740.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 3258,
"aa_ref": "L",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11810,
"cdna_start": 864,
"cds_end": null,
"cds_length": 9777,
"cds_start": 739,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005264002.4",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005264059.1",
"strand": true,
"transcript": "XM_005264002.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 3257,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11807,
"cdna_start": 861,
"cds_end": null,
"cds_length": 9774,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011511575.3",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Leu246Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509877.1",
"strand": true,
"transcript": "XM_011511575.3",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11633,
"cdna_start": 864,
"cds_end": null,
"cds_length": 9600,
"cds_start": 739,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011511576.4",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509878.1",
"strand": true,
"transcript": "XM_011511576.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 2807,
"aa_ref": "L",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9393,
"cdna_start": 864,
"cds_end": null,
"cds_length": 8424,
"cds_start": 739,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047445367.1",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301323.1",
"strand": true,
"transcript": "XM_047445367.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8882,
"cdna_start": 864,
"cds_end": null,
"cds_length": 6849,
"cds_start": 739,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005264007.4",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005264064.1",
"strand": true,
"transcript": "XM_005264007.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 2281,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8879,
"cdna_start": 861,
"cds_end": null,
"cds_length": 6846,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011511578.3",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Leu246Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509880.1",
"strand": true,
"transcript": "XM_011511578.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 904,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2896,
"cdna_start": 864,
"cds_end": null,
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"cds_start": 739,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017004625.2",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860114.1",
"strand": true,
"transcript": "XM_017004625.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_start": 864,
"cds_end": null,
"cds_length": 2625,
"cds_start": 739,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017004624.3",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860113.1",
"strand": true,
"transcript": "XM_017004624.3",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 671,
"cdna_start": null,
"cds_end": null,
"cds_length": 378,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917984.1",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "c.72+16528C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588043.1",
"strand": true,
"transcript": "ENST00000917984.1",
"transcript_support_level": null
},
{
"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": 2727,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000697738.1",
"gene_hgnc_id": 9848,
"gene_symbol": "RANBP2",
"hgvs_c": "n.848C>T",
"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": "ENST00000697738.1",
"transcript_support_level": null
},
{
"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": 1942,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
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