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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: 7-45000161-G-GGGGCCTGCTCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=45000161&ref=G&alt=GGGGCCTGCTCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 45000161,
"ref": "G",
"alt": "GGGGCCTGCTCT",
"effect": "intron_variant",
"transcript": "NR_030770.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "n.383+304_383+305insGGGCCTGCTCT",
"hgvs_p": null,
"transcript": "ENST00000461377.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000461377.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "n.112+304_112+305insGGGCCTGCTCT",
"hgvs_p": null,
"transcript": "NR_030770.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_030770.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.-173_-172insGGGCCTGCTCT",
"hgvs_p": null,
"transcript": "NM_031443.4",
"protein_id": "NP_113631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 444,
"cds_start": null,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258781.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031443.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.-173_-172insGGGCCTGCTCT",
"hgvs_p": null,
"transcript": "ENST00000258781.11",
"protein_id": "ENSP00000258781.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 444,
"cds_start": null,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031443.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258781.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.-173_-172insGGGCCTGCTCT",
"hgvs_p": null,
"transcript": "ENST00000938553.1",
"protein_id": "ENSP00000608612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": null,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938553.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.-173_-172insGGGCCTGCTCT",
"hgvs_p": null,
"transcript": "ENST00000956241.1",
"protein_id": "ENSP00000626300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": null,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956241.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.-173_-172insGGGCCTGCTCT",
"hgvs_p": null,
"transcript": "NM_001363458.2",
"protein_id": "NP_001350387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": null,
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"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363458.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.-173_-172insGGGCCTGCTCT",
"hgvs_p": null,
"transcript": "ENST00000860886.1",
"protein_id": "ENSP00000530945.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": null,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860886.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.-173_-172insGGGCCTGCTCT",
"hgvs_p": null,
"transcript": "ENST00000956242.1",
"protein_id": "ENSP00000626301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000956242.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "CCM2",
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"hgvs_c": "c.-173_-172insGGGCCTGCTCT",
"hgvs_p": null,
"transcript": "ENST00000956246.1",
"protein_id": "ENSP00000626305.1",
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"biotype": "protein_coding",
"feature": "ENST00000956246.1"
},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "CCM2",
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"hgvs_c": "c.-173_-172insGGGCCTGCTCT",
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"transcript": "ENST00000956249.1",
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},
{
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],
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},
{
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],
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},
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],
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},
{
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],
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"gene_symbol": "CCM2",
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},
{
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],
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},
{
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],
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"hgvs_c": "c.-173_-172insGGGCCTGCTCT",
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},
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],
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "CCM2",
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"hgvs_c": "c.-173_-172insGGGCCTGCTCT",
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},
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],
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},
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],
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"gene_symbol": "CCM2",
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},
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],
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "CCM2",
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"hgvs_c": "c.-173_-172insGGGCCTGCTCT",
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},
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