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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: 4-47878664-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=47878664&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 47878664,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_152995.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFXL1",
"gene_hgnc_id": 18726,
"hgvs_c": "c.1940T>C",
"hgvs_p": "p.Val647Ala",
"transcript": "NM_001278624.2",
"protein_id": "NP_001265553.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 911,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 3880,
"mane_select": "ENST00000507489.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278624.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFXL1",
"gene_hgnc_id": 18726,
"hgvs_c": "c.1940T>C",
"hgvs_p": "p.Val647Ala",
"transcript": "ENST00000507489.2",
"protein_id": "ENSP00000422037.1",
"transcript_support_level": 1,
"aa_start": 647,
"aa_end": null,
"aa_length": 911,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 3880,
"mane_select": "NM_001278624.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507489.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFXL1",
"gene_hgnc_id": 18726,
"hgvs_c": "c.1940T>C",
"hgvs_p": "p.Val647Ala",
"transcript": "ENST00000329043.7",
"protein_id": "ENSP00000333113.4",
"transcript_support_level": 1,
"aa_start": 647,
"aa_end": null,
"aa_length": 911,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329043.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFXL1",
"gene_hgnc_id": 18726,
"hgvs_c": "n.1940T>C",
"hgvs_p": null,
"transcript": "ENST00000464756.6",
"protein_id": "ENSP00000425812.1",
"transcript_support_level": 1,
"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": 3865,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000464756.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFXL1",
"gene_hgnc_id": 18726,
"hgvs_c": "n.41T>C",
"hgvs_p": null,
"transcript": "ENST00000502448.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1760,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000502448.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFXL1",
"gene_hgnc_id": 18726,
"hgvs_c": "c.1940T>C",
"hgvs_p": "p.Val647Ala",
"transcript": "NM_001278623.1",
"protein_id": "NP_001265552.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 911,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278623.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFXL1",
"gene_hgnc_id": 18726,
"hgvs_c": "c.1940T>C",
"hgvs_p": "p.Val647Ala",
"transcript": "NM_152995.6",
"protein_id": "NP_694540.3",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 911,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152995.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFXL1",
"gene_hgnc_id": 18726,
"hgvs_c": "c.1940T>C",
"hgvs_p": "p.Val647Ala",
"transcript": "ENST00000381538.7",
"protein_id": "ENSP00000370949.3",
"transcript_support_level": 2,
"aa_start": 647,
"aa_end": null,
"aa_length": 911,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2009,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381538.7"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFXL1",
"gene_hgnc_id": 18726,
"hgvs_c": "c.1940T>C",
"hgvs_p": "p.Val647Ala",
"transcript": "ENST00000906325.1",
"protein_id": "ENSP00000576386.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 911,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906325.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFXL1",
"gene_hgnc_id": 18726,
"hgvs_c": "c.1940T>C",
"hgvs_p": "p.Val647Ala",
"transcript": "ENST00000927224.1",
"protein_id": "ENSP00000597283.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 911,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 3743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927224.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFXL1",
"gene_hgnc_id": 18726,
"hgvs_c": "c.1940T>C",
"hgvs_p": "p.Val647Ala",
"transcript": "ENST00000927225.1",
"protein_id": "ENSP00000597284.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 882,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 3490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927225.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFXL1",
"gene_hgnc_id": 18726,
"hgvs_c": "n.2009T>C",
"hgvs_p": null,
"transcript": "ENST00000507131.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000507131.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFXL1",
"gene_hgnc_id": 18726,
"hgvs_c": "n.1997T>C",
"hgvs_p": null,
"transcript": "NR_103795.1",
"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": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_103795.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282917",
"gene_hgnc_id": 58782,
"hgvs_c": "n.354+3333A>G",
"hgvs_p": null,
"transcript": "ENST00000634611.4",
"protein_id": null,
"transcript_support_level": 2,
"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": 759,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000634611.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282917",
"gene_hgnc_id": 58782,
"hgvs_c": "n.354+3333A>G",
"hgvs_p": null,
"transcript": "ENST00000634948.4",
"protein_id": null,
"transcript_support_level": 5,
"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": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000634948.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282917",
"gene_hgnc_id": 58782,
"hgvs_c": "n.170-3578A>G",
"hgvs_p": null,
"transcript": "ENST00000652844.1",
"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": 439,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000652844.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282917",
"gene_hgnc_id": 58782,
"hgvs_c": "n.320+3333A>G",
"hgvs_p": null,
"transcript": "ENST00000656214.2",
"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": 1744,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000656214.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282917",
"gene_hgnc_id": 58782,
"hgvs_c": "n.312+3333A>G",
"hgvs_p": null,
"transcript": "ENST00000687411.3",
"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": 1171,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000687411.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282917",
"gene_hgnc_id": 58782,
"hgvs_c": "n.184-17878A>G",
"hgvs_p": null,
"transcript": "ENST00000689064.2",
"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": 586,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000689064.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282917",
"gene_hgnc_id": 58782,
"hgvs_c": "n.333+3333A>G",
"hgvs_p": null,
"transcript": "ENST00000689791.2",
"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": 466,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000689791.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282917",
"gene_hgnc_id": 58782,
"hgvs_c": "n.339+3333A>G",
"hgvs_p": null,
"transcript": "ENST00000690569.2",
"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": 726,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000690569.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282917",
"gene_hgnc_id": 58782,
"hgvs_c": "n.316+3333A>G",
"hgvs_p": null,
"transcript": "ENST00000690605.2",
"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": 669,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000690605.2"
},
{
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"revel_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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{
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"BP4_Moderate"
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{
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "",
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{
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}