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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: 6-137877109-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=137877109&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 137877109,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006290.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "NM_001270508.2",
"protein_id": "NP_001257437.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000612899.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270508.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "ENST00000612899.5",
"protein_id": "ENSP00000481570.1",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001270508.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612899.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "ENST00000237289.8",
"protein_id": "ENSP00000237289.4",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000237289.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "NM_001270507.2",
"protein_id": "NP_001257436.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270507.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "NM_006290.4",
"protein_id": "NP_006281.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006290.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "ENST00000420009.6",
"protein_id": "ENSP00000401562.2",
"transcript_support_level": 3,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420009.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "ENST00000421450.2",
"protein_id": "ENSP00000393577.2",
"transcript_support_level": 2,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421450.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "ENST00000433680.2",
"protein_id": "ENSP00000409845.2",
"transcript_support_level": 3,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433680.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "ENST00000906237.1",
"protein_id": "ENSP00000576296.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906237.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "ENST00000906238.1",
"protein_id": "ENSP00000576297.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906238.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "ENST00000906239.1",
"protein_id": "ENSP00000576298.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906239.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "ENST00000906240.1",
"protein_id": "ENSP00000576299.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906240.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "ENST00000906241.1",
"protein_id": "ENSP00000576300.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906241.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "ENST00000906242.1",
"protein_id": "ENSP00000576301.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906242.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "ENST00000971893.1",
"protein_id": "ENSP00000641952.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971893.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "ENST00000971894.1",
"protein_id": "ENSP00000641953.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971894.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.884G>C",
"hgvs_p": "p.Arg295Pro",
"transcript": "XM_047419282.1",
"protein_id": "XP_047275238.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 805,
"cds_start": 884,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419282.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "XM_005267119.1",
"protein_id": "XP_005267176.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267119.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "XM_011536095.2",
"protein_id": "XP_011534397.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536095.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "XM_024446532.2",
"protein_id": "XP_024302300.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446532.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "XM_024446533.2",
"protein_id": "XP_024302301.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446533.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "XM_047419283.1",
"protein_id": "XP_047275239.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 790,
"cds_start": 839,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
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{
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}