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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: 11-63719914-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=63719914&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 63719914,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000377819.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.1412T>C",
"hgvs_p": "p.Val471Ala",
"transcript": "NM_001265589.2",
"protein_id": "NP_001252518.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 1032,
"cds_start": 1412,
"cds_end": null,
"cds_length": 3099,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 4917,
"mane_select": "ENST00000377819.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.1412T>C",
"hgvs_p": "p.Val471Ala",
"transcript": "ENST00000377819.10",
"protein_id": "ENSP00000367050.5",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 1032,
"cds_start": 1412,
"cds_end": null,
"cds_length": 3099,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 4917,
"mane_select": "NM_001265589.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.1355T>C",
"hgvs_p": "p.Val452Ala",
"transcript": "ENST00000339997.8",
"protein_id": "ENSP00000344106.4",
"transcript_support_level": 1,
"aa_start": 452,
"aa_end": null,
"aa_length": 1013,
"cds_start": 1355,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 4886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.1076T>C",
"hgvs_p": "p.Val359Ala",
"transcript": "ENST00000540798.5",
"protein_id": "ENSP00000442733.1",
"transcript_support_level": 1,
"aa_start": 359,
"aa_end": null,
"aa_length": 920,
"cds_start": 1076,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.143-30077T>C",
"hgvs_p": null,
"transcript": "ENST00000537981.5",
"protein_id": "ENSP00000440874.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": -4,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.1355T>C",
"hgvs_p": "p.Val452Ala",
"transcript": "NM_201428.3",
"protein_id": "NP_958831.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1013,
"cds_start": 1355,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 4860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.1076T>C",
"hgvs_p": "p.Val359Ala",
"transcript": "NM_001265590.2",
"protein_id": "NP_001252519.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 920,
"cds_start": 1076,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 4581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.1412T>C",
"hgvs_p": "p.Val471Ala",
"transcript": "XM_011544730.3",
"protein_id": "XP_011543032.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 1037,
"cds_start": 1412,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 4917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.1412T>C",
"hgvs_p": "p.Val471Ala",
"transcript": "XM_017017091.2",
"protein_id": "XP_016872580.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 880,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 4151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.1412T>C",
"hgvs_p": "p.Val471Ala",
"transcript": "XM_017017092.2",
"protein_id": "XP_016872581.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 848,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 7261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.199+15007T>C",
"hgvs_p": null,
"transcript": "NM_201429.2",
"protein_id": "NP_958832.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": -4,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.199+15007T>C",
"hgvs_p": null,
"transcript": "ENST00000356000.7",
"protein_id": "ENSP00000348279.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": -4,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.143-30077T>C",
"hgvs_p": null,
"transcript": "NM_201430.3",
"protein_id": "NP_958833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": -4,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
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"cdna_length": 2470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.143-30077T>C",
"hgvs_p": null,
"transcript": "ENST00000341307.6",
"protein_id": "ENSP00000340903.2",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.143-30077T>C",
"hgvs_p": null,
"transcript": "NM_006054.4",
"protein_id": "NP_006045.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": -4,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
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"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.143-30077T>C",
"hgvs_p": null,
"transcript": "NM_001265591.2",
"protein_id": "NP_001252520.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.143-30077T>C",
"hgvs_p": null,
"transcript": "ENST00000354497.4",
"protein_id": "ENSP00000346492.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 214,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.143-27033T>C",
"hgvs_p": null,
"transcript": "ENST00000542238.5",
"protein_id": "ENSP00000437971.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": -4,
"cds_end": null,
"cds_length": 556,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "n.143-30077T>C",
"hgvs_p": null,
"transcript": "ENST00000536011.5",
"protein_id": "ENSP00000440960.1",
"transcript_support_level": 2,
"aa_start": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "n.280-30077T>C",
"hgvs_p": null,
"transcript": "ENST00000543123.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "n.280-30077T>C",
"hgvs_p": null,
"transcript": "NR_049750.2",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "n.280-30077T>C",
"hgvs_p": null,
"transcript": "NR_049751.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RTN3",
"gene_hgnc_id": 10469,
"hgvs_c": "c.199+15007T>C",
"hgvs_p": null,
"transcript": "XM_011544731.3",
"protein_id": "XP_011543033.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 260,
"cds_start": -4,
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"cds_length": 783,
"cdna_start": null,
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"cdna_length": 2586,
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}
],
"gene_symbol": "RTN3",
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"dbsnp": "rs542998",
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"gnomad_exomes_ac": 1172129,
"gnomad_genomes_ac": 110454,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 5.771069595539302e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.1057,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.073,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000377819.10",
"gene_symbol": "RTN3",
"hgnc_id": 10469,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1412T>C",
"hgvs_p": "p.Val471Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}