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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: 6-131263508-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=131263508&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 131263508,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000431975.7",
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.851-18022T>C",
"hgvs_p": null,
"transcript": "NM_016377.4",
"protein_id": "NP_057461.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": "ENST00000431975.7",
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.851-18022T>C",
"hgvs_p": null,
"transcript": "ENST00000431975.7",
"protein_id": "ENSP00000405252.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": "NM_016377.4",
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.118+10403T>C",
"hgvs_p": null,
"transcript": "ENST00000474850.2",
"protein_id": "ENSP00000418208.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": -4,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 670,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.49+12892T>C",
"hgvs_p": null,
"transcript": "ENST00000342266.4",
"protein_id": "ENSP00000345149.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": -4,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2461,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.851-18891T>C",
"hgvs_p": null,
"transcript": "NM_001376570.1",
"protein_id": "NP_001363499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": -4,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2281,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.851-18891T>C",
"hgvs_p": null,
"transcript": "ENST00000683794.1",
"protein_id": "ENSP00000506952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": -4,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
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"cdna_length": 2281,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.848-18891T>C",
"hgvs_p": null,
"transcript": "ENST00000541650.5",
"protein_id": "ENSP00000441048.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 350,
"cds_start": -4,
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"cds_length": 1053,
"cdna_start": null,
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"cdna_length": 2008,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.785-18891T>C",
"hgvs_p": null,
"transcript": "NM_001387863.1",
"protein_id": "NP_001374792.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": -4,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2359,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.719-18022T>C",
"hgvs_p": null,
"transcript": "NM_001387860.1",
"protein_id": "NP_001374789.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3018,
"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": "AKAP7",
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"hgvs_c": "c.851-19677T>C",
"hgvs_p": null,
"transcript": "NM_001387861.1",
"protein_id": "NP_001374790.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "AKAP7",
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"hgvs_c": "c.118+10403T>C",
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"transcript": "NM_138633.3",
"protein_id": "NP_619539.1",
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},
{
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],
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},
{
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],
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"transcript": "NM_001387864.1",
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},
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],
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"gene_symbol": "AKAP7",
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"hgvs_c": "c.59-18022T>C",
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"transcript": "ENST00000263050.3",
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],
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},
{
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],
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"hgvs_c": "c.49+12892T>C",
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"transcript": "NM_004842.4",
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},
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],
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"gene_symbol": "ENSG00000290067",
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},
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],
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"gene_symbol": "ENSG00000290067",
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},
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],
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},
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],
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"gene_symbol": "ENSG00000290067",
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},
{
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"protein_coding": false,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
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"hgvs_c": "n.1747-18891T>C",
"hgvs_p": null,
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},
{
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"consequences": [
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}