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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: 16-3656184-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3656184&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 3656184,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001387139.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Arg107Gly",
"transcript": "NM_005223.4",
"protein_id": "NP_005214.2",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 282,
"cds_start": 319,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000246949.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005223.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Arg107Gly",
"transcript": "ENST00000246949.10",
"protein_id": "ENSP00000246949.5",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 282,
"cds_start": 319,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005223.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246949.10"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Arg107Gly",
"transcript": "ENST00000407479.5",
"protein_id": "ENSP00000385905.1",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 282,
"cds_start": 319,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407479.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Arg107Gly",
"transcript": "NM_001387139.1",
"protein_id": "NP_001374068.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 305,
"cds_start": 319,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387139.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Arg107Gly",
"transcript": "NM_001351825.2",
"protein_id": "NP_001338754.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 282,
"cds_start": 319,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351825.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Arg107Gly",
"transcript": "NM_001387135.1",
"protein_id": "NP_001374064.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 282,
"cds_start": 319,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387135.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Arg107Gly",
"transcript": "NM_001387140.1",
"protein_id": "NP_001374069.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 276,
"cds_start": 319,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387140.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "NM_001387141.1",
"protein_id": "NP_001374070.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 213,
"cds_start": 112,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387141.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Arg107Gly",
"transcript": "XM_047433675.1",
"protein_id": "XP_047289631.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 282,
"cds_start": 319,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433675.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Arg107Gly",
"transcript": "XM_047433676.1",
"protein_id": "XP_047289632.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 282,
"cds_start": 319,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433676.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Arg107Gly",
"transcript": "XM_047433677.1",
"protein_id": "XP_047289633.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 282,
"cds_start": 319,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433677.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Arg107Gly",
"transcript": "XM_024450170.2",
"protein_id": "XP_024305938.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 276,
"cds_start": 319,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450170.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "XM_047433679.1",
"protein_id": "XP_047289635.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 213,
"cds_start": 112,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433679.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Arg107Gly",
"transcript": "XM_047433680.1",
"protein_id": "XP_047289636.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 184,
"cds_start": 319,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433680.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.357A>G",
"hgvs_p": "p.Thr119Thr",
"transcript": "XM_047433678.1",
"protein_id": "XP_047289634.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 257,
"cds_start": 357,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433678.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.81A>G",
"hgvs_p": "p.Thr27Thr",
"transcript": "XM_047433682.1",
"protein_id": "XP_047289638.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 165,
"cds_start": 81,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433682.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.81A>G",
"hgvs_p": "p.Thr27Thr",
"transcript": "XM_047433683.1",
"protein_id": "XP_047289639.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 165,
"cds_start": 81,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433683.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "n.*47A>G",
"hgvs_p": null,
"transcript": "ENST00000570376.5",
"protein_id": "ENSP00000461725.1",
"transcript_support_level": 3,
"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": "ENST00000570376.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "n.*87A>G",
"hgvs_p": null,
"transcript": "ENST00000570769.5",
"protein_id": "ENSP00000458467.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000570769.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "n.64A>G",
"hgvs_p": null,
"transcript": "ENST00000570807.5",
"protein_id": "ENSP00000458959.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000570807.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "n.*47A>G",
"hgvs_p": null,
"transcript": "ENST00000571460.5",
"protein_id": "ENSP00000459850.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000571460.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Pathogenic",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Uncertain_significance",
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"dbscsnv_ada_prediction": "Pathogenic",
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"acmg_by_gene": [
{
"score": -4,
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"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
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"effects": [
"missense_variant",
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{
"score": -4,
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"PP3_Moderate",
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "XR_007064954.1",
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"effects": [
"non_coding_transcript_exon_variant"
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"inheritance_mode": "",
"hgvs_c": "n.1410T>C",
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},
{
"score": -4,
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"criteria": [
"PP3_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000575707.5",
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"effects": [
"intron_variant"
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}