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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: 6-90550397-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=90550397&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 90550397,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000369329.8",
"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": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.949+71A>T",
"hgvs_p": null,
"transcript": "NM_145331.3",
"protein_id": "NP_663304.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4932,
"mane_select": "ENST00000369329.8",
"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": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.949+71A>T",
"hgvs_p": null,
"transcript": "ENST00000369329.8",
"protein_id": "ENSP00000358335.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4932,
"mane_select": "NM_145331.3",
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.949+71A>T",
"hgvs_p": null,
"transcript": "ENST00000369332.7",
"protein_id": "ENSP00000358338.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": -4,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4830,
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.949+71A>T",
"hgvs_p": null,
"transcript": "ENST00000369325.7",
"protein_id": "ENSP00000358331.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 518,
"cds_start": -4,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4633,
"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": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.949+71A>T",
"hgvs_p": null,
"transcript": "ENST00000369327.7",
"protein_id": "ENSP00000358333.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 491,
"cds_start": -4,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4558,
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.1024+71A>T",
"hgvs_p": null,
"transcript": "ENST00000700592.1",
"protein_id": "ENSP00000515083.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": -4,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2768,
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.949+71A>T",
"hgvs_p": null,
"transcript": "NM_003188.4",
"protein_id": "NP_003179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": -4,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4851,
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.883+71A>T",
"hgvs_p": null,
"transcript": "ENST00000700591.1",
"protein_id": "ENSP00000515082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2624,
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.949+71A>T",
"hgvs_p": null,
"transcript": "NM_145332.3",
"protein_id": "NP_663305.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 518,
"cds_start": -4,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4816,
"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,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.949+71A>T",
"hgvs_p": null,
"transcript": "NM_145333.3",
"protein_id": "NP_663306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 491,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 9,
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"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "c.640+71A>T",
"hgvs_p": null,
"transcript": "ENST00000700593.1",
"protein_id": "ENSP00000515084.1",
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"cds_start": -4,
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},
{
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"consequences": [
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],
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"exon_count": 5,
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"gene_symbol": "MAP3K7",
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"hgvs_c": "c.121-26614A>T",
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"transcript": "ENST00000703101.1",
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},
{
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],
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"gene_symbol": "MAP3K7",
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"hgvs_c": "n.1719+71A>T",
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"transcript": "ENST00000369320.1",
"protein_id": null,
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},
{
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"consequences": [
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],
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"gene_symbol": "MAP3K7",
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"hgvs_c": "n.949+71A>T",
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"transcript": "ENST00000700580.1",
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},
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],
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"gene_symbol": "MAP3K7",
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"transcript": "ENST00000700581.1",
"protein_id": "ENSP00000515075.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 10,
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"gene_symbol": "MAP3K7",
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"hgvs_c": "n.*804+71A>T",
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"transcript": "ENST00000700582.1",
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},
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],
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"gene_symbol": "MAP3K7",
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"transcript": "ENST00000700583.1",
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},
{
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"strand": false,
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],
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"intron_rank": 10,
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"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "n.*910+71A>T",
"hgvs_p": null,
"transcript": "ENST00000700584.1",
"protein_id": "ENSP00000515078.1",
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},
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "MAP3K7",
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"hgvs_c": "n.541+71A>T",
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},
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],
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},
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],
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},
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"strand": false,
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],
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"intron_rank": 10,
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"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "n.*353+71A>T",
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"transcript": "ENST00000700589.1",
"protein_id": "ENSP00000515081.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MAP3K7",
"gene_hgnc_id": 6859,
"hgvs_c": "n.1138+71A>T",
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"transcript": "ENST00000700590.1",
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},
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],
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"splice_prediction_selected": "Benign",
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"acmg_by_gene": [
{
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"BP4_Strong"
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"verdict": "Likely_benign",
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"inheritance_mode": "AD",
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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
}