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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: 17-46713913-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=46713913&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 46713913,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006178.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1688C>G",
"hgvs_p": "p.Pro563Arg",
"transcript": "NM_006178.4",
"protein_id": "NP_006169.2",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 744,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398238.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006178.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1688C>G",
"hgvs_p": "p.Pro563Arg",
"transcript": "ENST00000398238.8",
"protein_id": "ENSP00000381293.4",
"transcript_support_level": 1,
"aa_start": 563,
"aa_end": null,
"aa_length": 744,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006178.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398238.8"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1688C>G",
"hgvs_p": "p.Pro563Arg",
"transcript": "ENST00000465370.2",
"protein_id": "ENSP00000467779.2",
"transcript_support_level": 5,
"aa_start": 563,
"aa_end": null,
"aa_length": 769,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465370.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1688C>G",
"hgvs_p": "p.Pro563Arg",
"transcript": "ENST00000706392.1",
"protein_id": "ENSP00000516369.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 744,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706392.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1688C>G",
"hgvs_p": "p.Pro563Arg",
"transcript": "ENST00000706391.1",
"protein_id": "ENSP00000516368.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 743,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706391.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1688C>G",
"hgvs_p": "p.Pro563Arg",
"transcript": "ENST00000706373.1",
"protein_id": "ENSP00000516356.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 742,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706373.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1679C>G",
"hgvs_p": "p.Pro560Arg",
"transcript": "ENST00000891010.1",
"protein_id": "ENSP00000561069.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 741,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891010.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1673C>G",
"hgvs_p": "p.Pro558Arg",
"transcript": "ENST00000575068.5",
"protein_id": "ENSP00000458221.1",
"transcript_support_level": 2,
"aa_start": 558,
"aa_end": null,
"aa_length": 739,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575068.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1673C>G",
"hgvs_p": "p.Pro558Arg",
"transcript": "ENST00000576040.6",
"protein_id": "ENSP00000460152.2",
"transcript_support_level": 4,
"aa_start": 558,
"aa_end": null,
"aa_length": 739,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576040.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1673C>G",
"hgvs_p": "p.Pro558Arg",
"transcript": "ENST00000706400.1",
"protein_id": "ENSP00000516376.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 739,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706400.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1688C>G",
"hgvs_p": "p.Pro563Arg",
"transcript": "ENST00000706393.1",
"protein_id": "ENSP00000516370.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 738,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706393.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1613C>G",
"hgvs_p": "p.Pro538Arg",
"transcript": "ENST00000946851.1",
"protein_id": "ENSP00000616910.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 719,
"cds_start": 1613,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946851.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1577C>G",
"hgvs_p": "p.Pro526Arg",
"transcript": "ENST00000891011.1",
"protein_id": "ENSP00000561070.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 707,
"cds_start": 1577,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891011.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1688C>G",
"hgvs_p": "p.Pro563Arg",
"transcript": "ENST00000891012.1",
"protein_id": "ENSP00000561071.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 699,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891012.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1406C>G",
"hgvs_p": "p.Pro469Arg",
"transcript": "ENST00000706399.1",
"protein_id": "ENSP00000516375.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 650,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706399.1"
},
{
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1470+9059C>G",
"hgvs_p": null,
"transcript": "ENST00000706396.1",
"protein_id": "ENSP00000516372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": null,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706396.1"
},
{
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1375-12636C>G",
"hgvs_p": null,
"transcript": "ENST00000706395.1",
"protein_id": "ENSP00000516371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 615,
"cds_start": null,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706395.1"
},
{
"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": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1470+9059C>G",
"hgvs_p": null,
"transcript": "ENST00000706398.1",
"protein_id": "ENSP00000516374.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 598,
"cds_start": null,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706398.1"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.4809+163394C>G",
"hgvs_p": null,
"transcript": "XM_024450773.2",
"protein_id": "XP_024306541.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1604,
"cds_start": null,
"cds_end": null,
"cds_length": 4815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450773.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "n.*1402C>G",
"hgvs_p": null,
"transcript": "ENST00000571864.6",
"protein_id": "ENSP00000461448.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000571864.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "n.274C>G",
"hgvs_p": null,
"transcript": "ENST00000576346.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000576346.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "n.1770C>G",
"hgvs_p": null,
"transcript": "ENST00000706374.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000706374.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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],
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"computational_score_selected": 0.9357168674468994,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.935,
"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.47,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.503,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
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"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
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"PM5",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_006178.4",
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"effects": [
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"inheritance_mode": "AD",
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"hgvs_p": "p.Pro563Arg"
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{
"score": 6,
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"PP5_Moderate"
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"verdict": "Likely_pathogenic",
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"inheritance_mode": "AR",
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}
],
"clinvar_disease": "Developmental and epileptic encephalopathy 96",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Developmental and epileptic encephalopathy 96",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}