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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: 7-110839479-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=110839479&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 110839479,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000405709.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IMMP2L",
"gene_hgnc_id": 14598,
"hgvs_c": "c.408+47114C>T",
"hgvs_p": null,
"transcript": "NM_032549.4",
"protein_id": "NP_115938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": "ENST00000405709.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IMMP2L",
"gene_hgnc_id": 14598,
"hgvs_c": "c.408+47114C>T",
"hgvs_p": null,
"transcript": "ENST00000405709.7",
"protein_id": "ENSP00000384966.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": "NM_032549.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IMMP2L",
"gene_hgnc_id": 14598,
"hgvs_c": "c.408+47114C>T",
"hgvs_p": null,
"transcript": "ENST00000331762.7",
"protein_id": "ENSP00000329553.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP2L",
"gene_hgnc_id": 14598,
"hgvs_c": "c.*46273C>T",
"hgvs_p": null,
"transcript": "XM_017012703.2",
"protein_id": "XP_016868192.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": -4,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 49903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP2L",
"gene_hgnc_id": 14598,
"hgvs_c": "c.*46273C>T",
"hgvs_p": null,
"transcript": "XM_047420926.1",
"protein_id": "XP_047276882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": -4,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 49279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IMMP2L",
"gene_hgnc_id": 14598,
"hgvs_c": "c.492+47114C>T",
"hgvs_p": null,
"transcript": "NM_001350961.2",
"protein_id": "NP_001337890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": -4,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IMMP2L",
"gene_hgnc_id": 14598,
"hgvs_c": "c.408+47114C>T",
"hgvs_p": null,
"transcript": "NM_001244606.2",
"protein_id": "NP_001231535.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IMMP2L",
"gene_hgnc_id": 14598,
"hgvs_c": "c.408+47114C>T",
"hgvs_p": null,
"transcript": "NM_001350959.2",
"protein_id": "NP_001337888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IMMP2L",
"gene_hgnc_id": 14598,
"hgvs_c": "c.408+47114C>T",
"hgvs_p": null,
"transcript": "NM_001350960.2",
"protein_id": "NP_001337889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IMMP2L",
"gene_hgnc_id": 14598,
"hgvs_c": "c.408+47114C>T",
"hgvs_p": null,
"transcript": "ENST00000452895.5",
"protein_id": "ENSP00000399353.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "IMMP2L",
"gene_hgnc_id": 14598,
"hgvs_c": "c.354+47114C>T",
"hgvs_p": null,
"transcript": "ENST00000450877.5",
"protein_id": "ENSP00000402824.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"consequences": [
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],
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"gene_symbol": "IMMP2L",
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"hgvs_c": "c.305+124021C>T",
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},
{
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],
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"gene_symbol": "IMMP2L",
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},
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"strand": false,
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],
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},
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],
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},
{
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],
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"intron_rank": 7,
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"gene_symbol": "IMMP2L",
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},
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},
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],
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"gene_symbol": "IMMP2L",
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"hgvs_c": "c.409-3744C>T",
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"transcript": "XM_017012702.2",
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],
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],
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},
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"strand": false,
"consequences": [
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],
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"gene_symbol": "IMMP2L",
"gene_hgnc_id": 14598,
"hgvs_c": "c.389+124021C>T",
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"transcript": "XM_011516609.3",
"protein_id": "XP_011514911.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "IMMP2L",
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"hgvs_c": "c.389+124021C>T",
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"transcript": "XM_047420927.1",
"protein_id": "XP_047276883.1",
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},
{
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{
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{
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}
],
"gene_symbol": "IMMP2L",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"computational_score_selected": -0.9200000166893005,
"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": -0.92,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000405709.7",
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"effects": [
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"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}