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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: 18-51030351-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=51030351&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 51030351,
"ref": "C",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "NM_005359.6",
"consequences": [
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.-400C>A",
"hgvs_p": null,
"transcript": "NM_005359.6",
"protein_id": "NP_005350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": -4,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8772,
"mane_select": "ENST00000342988.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.-400C>A",
"hgvs_p": null,
"transcript": "ENST00000342988.8",
"protein_id": "ENSP00000341551.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": -4,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8772,
"mane_select": "NM_005359.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"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": "ENSG00000267699",
"gene_hgnc_id": null,
"hgvs_c": "n.158-16569C>A",
"hgvs_p": null,
"transcript": "ENST00000590722.2",
"protein_id": "ENSP00000465737.1",
"transcript_support_level": 2,
"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": 1228,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.-400C>A",
"hgvs_p": null,
"transcript": "ENST00000714260.1",
"protein_id": "ENSP00000519541.1",
"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": 3601,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.-400C>A",
"hgvs_p": null,
"transcript": "ENST00000714262.1",
"protein_id": "ENSP00000519543.1",
"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": 3699,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.-400C>A",
"hgvs_p": null,
"transcript": "ENST00000714263.1",
"protein_id": "ENSP00000519544.1",
"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": 3676,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.-400C>A",
"hgvs_p": null,
"transcript": "ENST00000714265.1",
"protein_id": "ENSP00000519546.1",
"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": 8635,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.-400C>A",
"hgvs_p": null,
"transcript": "ENST00000714267.1",
"protein_id": "ENSP00000519548.1",
"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": 3652,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.-400C>A",
"hgvs_p": null,
"transcript": "ENST00000714271.1",
"protein_id": "ENSP00000519552.1",
"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": 4147,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.-400C>A",
"hgvs_p": null,
"transcript": "ENST00000714273.1",
"protein_id": "ENSP00000519554.1",
"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": 3784,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.139C>A",
"hgvs_p": null,
"transcript": "NR_176264.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_length": 1878,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.139C>A",
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"transcript": "NR_176265.1",
"protein_id": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.-400C>A",
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"transcript": "ENST00000714264.1",
"protein_id": "ENSP00000519545.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.-400C>A",
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"transcript": "ENST00000714270.1",
"protein_id": "ENSP00000519551.1",
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},
{
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"strand": true,
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"5_prime_UTR_variant"
],
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"intron_rank": null,
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"gene_symbol": "SMAD4",
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"hgvs_c": "c.-400C>A",
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"transcript": "ENST00000714261.1",
"protein_id": "ENSP00000519542.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.-565C>A",
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"transcript": "ENST00000589941.2",
"protein_id": "ENSP00000465874.2",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.-400C>A",
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"transcript": "ENST00000714272.1",
"protein_id": "ENSP00000519553.1",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.-400C>A",
"hgvs_p": null,
"transcript": "ENST00000714268.1",
"protein_id": "ENSP00000519549.1",
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.-400C>A",
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"transcript": "ENST00000593223.2",
"protein_id": "ENSP00000466118.2",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "SMAD4",
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},
{
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"strand": true,
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],
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"intron_rank": null,
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"gene_symbol": "SMAD4",
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"hgvs_c": "c.-400C>A",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.-400C>A",
"hgvs_p": null,
"transcript": "NM_001407043.1",
"protein_id": "NP_001393972.1",
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"aa_start": null,
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"aa_length": 381,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1816,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.-400C>A",
"hgvs_p": null,
"transcript": "ENST00000714260.1",
"protein_id": "ENSP00000519541.1",
"transcript_support_level": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Strong"
],
"verdict": "Likely_benign",
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],
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},
{
"score": -2,
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"criteria": [
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000590722.2",
"gene_symbol": "ENSG00000267699",
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"effects": [
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],
"inheritance_mode": "",
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},
{
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],
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"gene_symbol": "ENSG00000289868",
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],
"inheritance_mode": "",
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}
],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Myhre syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}