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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: 9-613571-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=613571&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 613571,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_015158.5",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-83-63319G>T",
"hgvs_p": null,
"transcript": "NM_015158.5",
"protein_id": "NP_055973.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5070,
"mane_select": "ENST00000382297.7",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-83-63319G>T",
"hgvs_p": null,
"transcript": "ENST00000382297.7",
"protein_id": "ENSP00000371734.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5070,
"mane_select": "NM_015158.5",
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-83-63319G>T",
"hgvs_p": null,
"transcript": "ENST00000382303.5",
"protein_id": "ENSP00000371740.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5581,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-83-63319G>T",
"hgvs_p": null,
"transcript": "ENST00000619269.5",
"protein_id": "ENSP00000477725.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1375,
"cds_start": -4,
"cds_end": null,
"cds_length": 4128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5131,
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-83-63319G>T",
"hgvs_p": null,
"transcript": "NM_001256876.3",
"protein_id": "NP_001243805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5575,
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-83-63319G>T",
"hgvs_p": null,
"transcript": "NM_001256877.3",
"protein_id": "NP_001243806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5685,
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-83-63319G>T",
"hgvs_p": null,
"transcript": "NM_001354334.2",
"protein_id": "NP_001341263.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
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"cdna_start": null,
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"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-83-63319G>T",
"hgvs_p": null,
"transcript": "NM_001438412.1",
"protein_id": "NP_001425341.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5184,
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-83-63319G>T",
"hgvs_p": null,
"transcript": "ENST00000674102.1",
"protein_id": "ENSP00000501167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"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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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-83-63319G>T",
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"transcript": "ENST00000685947.1",
"protein_id": "ENSP00000508833.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-83-63319G>T",
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"transcript": "ENST00000689779.1",
"protein_id": "ENSP00000508451.1",
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},
{
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],
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},
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],
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],
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"gene_symbol": "KANK1",
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},
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],
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},
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],
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"gene_symbol": "KANK1",
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],
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},
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],
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"gene_symbol": "KANK1",
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{
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"BA1"
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"verdict": "Benign",
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"effects": [
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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
}