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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: 9-35807330-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35807330&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35807330,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000342694.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2644G>A",
"hgvs_p": "p.Val882Ile",
"transcript": "NM_003995.4",
"protein_id": "NP_003986.2",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2644,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3462,
"cdna_end": null,
"cdna_length": 4248,
"mane_select": "ENST00000342694.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2644G>A",
"hgvs_p": "p.Val882Ile",
"transcript": "ENST00000342694.7",
"protein_id": "ENSP00000341083.2",
"transcript_support_level": 1,
"aa_start": 882,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2644,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3462,
"cdna_end": null,
"cdna_length": 4248,
"mane_select": "NM_003995.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2803G>A",
"hgvs_p": "p.Val935Ile",
"transcript": "ENST00000687787.1",
"protein_id": "ENSP00000509440.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1100,
"cds_start": 2803,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 2803,
"cdna_end": null,
"cdna_length": 3561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2734G>A",
"hgvs_p": "p.Val912Ile",
"transcript": "ENST00000693094.1",
"protein_id": "ENSP00000510161.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2734,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 2734,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2728G>A",
"hgvs_p": "p.Val910Ile",
"transcript": "ENST00000690070.1",
"protein_id": "ENSP00000509654.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 1075,
"cds_start": 2728,
"cds_end": null,
"cds_length": 3228,
"cdna_start": 2728,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2653G>A",
"hgvs_p": "p.Val885Ile",
"transcript": "NM_001378923.1",
"protein_id": "NP_001365852.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2653,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 3471,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Val858Ile",
"transcript": "ENST00000685871.1",
"protein_id": "ENSP00000509964.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 2652,
"cdna_end": null,
"cdna_length": 3410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2497G>A",
"hgvs_p": "p.Val833Ile",
"transcript": "ENST00000687357.1",
"protein_id": "ENSP00000509549.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 998,
"cds_start": 2497,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 2497,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Val228Ile",
"transcript": "ENST00000421267.6",
"protein_id": "ENSP00000399204.2",
"transcript_support_level": 5,
"aa_start": 228,
"aa_end": null,
"aa_length": 393,
"cds_start": 682,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Val417Ile",
"transcript": "XM_047423431.1",
"protein_id": "XP_047279387.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 582,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Val414Ile",
"transcript": "XM_024447561.2",
"protein_id": "XP_024303329.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 579,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 2165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.2644G>A",
"hgvs_p": null,
"transcript": "ENST00000448821.6",
"protein_id": "ENSP00000402902.2",
"transcript_support_level": 3,
"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": 3243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.2644G>A",
"hgvs_p": null,
"transcript": "ENST00000464810.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.2683G>A",
"hgvs_p": null,
"transcript": "ENST00000686159.1",
"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": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.1814G>A",
"hgvs_p": null,
"transcript": "ENST00000686486.1",
"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": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.2758G>A",
"hgvs_p": null,
"transcript": "ENST00000687302.1",
"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": 3575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.1799G>A",
"hgvs_p": null,
"transcript": "ENST00000687625.1",
"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": 2557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.2601G>A",
"hgvs_p": null,
"transcript": "ENST00000688201.1",
"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": 3374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.2576G>A",
"hgvs_p": null,
"transcript": "ENST00000688226.1",
"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": 3334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.2950G>A",
"hgvs_p": null,
"transcript": "ENST00000688869.1",
"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": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.*1730G>A",
"hgvs_p": null,
"transcript": "ENST00000689788.1",
"protein_id": "ENSP00000508973.1",
"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": 3196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.*1031G>A",
"hgvs_p": null,
"transcript": "ENST00000689898.1",
"protein_id": "ENSP00000509651.1",
"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": 3259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
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],
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"dbsnp": "rs55700371",
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"computational_score_selected": 0.390096515417099,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0.8560000061988831,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.396,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4315,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.971,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.15,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.998670708719773,
"dbscsnv_ada_prediction": "Pathogenic",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2,PP3",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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"PP3"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000342694.7",
"gene_symbol": "NPR2",
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"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2644G>A",
"hgvs_p": "p.Val882Ile"
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],
"clinvar_disease": " Maroteaux type,Acromesomelic dysplasia 1,Tall stature-scoliosis-macrodactyly of the great toes syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Tall stature-scoliosis-macrodactyly of the great toes syndrome;Acromesomelic dysplasia 1, Maroteaux type|Acromesomelic dysplasia 1, Maroteaux type|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}