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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: 14-65471171-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=65471171&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 65471171,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000673929.1",
"consequences": [
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-228+15453C>A",
"hgvs_p": null,
"transcript": "NM_001371533.1",
"protein_id": "NP_001358462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": -4,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4249,
"mane_select": "ENST00000673929.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-228+15453C>A",
"hgvs_p": null,
"transcript": "ENST00000673929.1",
"protein_id": "ENSP00000501213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": -4,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4249,
"mane_select": "NM_001371533.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-228+15453C>A",
"hgvs_p": null,
"transcript": "ENST00000360689.9",
"protein_id": "ENSP00000353910.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": -4,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-228+59178C>A",
"hgvs_p": null,
"transcript": "ENST00000394586.6",
"protein_id": "ENSP00000378087.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": -4,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-287+15453C>A",
"hgvs_p": null,
"transcript": "ENST00000358307.6",
"protein_id": "ENSP00000351057.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": -4,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "n.-228+15453C>A",
"hgvs_p": null,
"transcript": "ENST00000342677.10",
"protein_id": "ENSP00000345865.6",
"transcript_support_level": 1,
"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": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR625",
"gene_hgnc_id": 32881,
"hgvs_c": "n.70C>A",
"hgvs_p": null,
"transcript": "ENST00000385047.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 85,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR625",
"gene_hgnc_id": 32881,
"hgvs_c": "n.70C>A",
"hgvs_p": null,
"transcript": "NR_030355.1",
"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": 85,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR625",
"gene_hgnc_id": 32881,
"hgvs_c": "n.19C>A",
"hgvs_p": null,
"transcript": "unassigned_transcript_2337",
"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": 22,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-8841C>A",
"hgvs_p": null,
"transcript": "XM_047431180.1",
"protein_id": "XP_047287136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": -4,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-228+15453C>A",
"hgvs_p": null,
"transcript": "NM_001371536.1",
"protein_id": "NP_001358465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": -4,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-228+15453C>A",
"hgvs_p": null,
"transcript": "NM_001371534.1",
"protein_id": "NP_001358463.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-228+15453C>A",
"hgvs_p": null,
"transcript": "NM_178155.3",
"protein_id": "NP_835368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-228+59178C>A",
"hgvs_p": null,
"transcript": "NM_178156.2",
"protein_id": "NP_835369.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"strand": true,
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"intron_variant"
],
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"exon_count": 11,
"intron_rank": 2,
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"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-228+15453C>A",
"hgvs_p": null,
"transcript": "ENST00000674118.1",
"protein_id": "ENSP00000501008.1",
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-287+15453C>A",
"hgvs_p": null,
"transcript": "NM_004480.4",
"protein_id": "NP_004471.4",
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-287+15453C>A",
"hgvs_p": null,
"transcript": "ENST00000557164.5",
"protein_id": "ENSP00000452433.1",
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-305-8536C>A",
"hgvs_p": null,
"transcript": "ENST00000557338.5",
"protein_id": "ENSP00000452105.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-228+57957C>A",
"hgvs_p": null,
"transcript": "ENST00000554610.1",
"protein_id": "ENSP00000452309.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FUT8",
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"hgvs_c": "c.-305-8536C>A",
"hgvs_p": null,
"transcript": "ENST00000555559.5",
"protein_id": "ENSP00000451689.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-228+15453C>A",
"hgvs_p": null,
"transcript": "ENST00000556518.5",
"protein_id": "ENSP00000452597.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-374+15453C>A",
"hgvs_p": null,
"transcript": "ENST00000553924.5",
"protein_id": "ENSP00000451577.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "n.1500+15453C>A",
"hgvs_p": null,
"transcript": "NR_038167.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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},
{
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},
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}
],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
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"acmg_by_gene": [
{
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"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
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"effects": [
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},
{
"score": -2,
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"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.70C>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}