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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: 4-122262050-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=122262050&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 122262050,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000679879.1",
"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": 88,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.6763-714A>C",
"hgvs_p": null,
"transcript": "NM_001384125.1",
"protein_id": "NP_001371054.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5093,
"cds_start": -4,
"cds_end": null,
"cds_length": 15282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16162,
"mane_select": "ENST00000679879.1",
"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": 88,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.6763-714A>C",
"hgvs_p": null,
"transcript": "ENST00000679879.1",
"protein_id": "ENSP00000505357.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5093,
"cds_start": -4,
"cds_end": null,
"cds_length": 15282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16162,
"mane_select": "NM_001384125.1",
"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": 85,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.6763-714A>C",
"hgvs_p": null,
"transcript": "ENST00000388738.8",
"protein_id": "ENSP00000373390.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 4890,
"cds_start": -4,
"cds_end": null,
"cds_length": 14673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15456,
"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": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.634-714A>C",
"hgvs_p": null,
"transcript": "ENST00000419325.5",
"protein_id": "ENSP00000393219.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1637,
"cds_start": -4,
"cds_end": null,
"cds_length": 4914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4967,
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.2479-714A>C",
"hgvs_p": null,
"transcript": "ENST00000446180.5",
"protein_id": "ENSP00000394909.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1446,
"cds_start": -4,
"cds_end": null,
"cds_length": 4341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4476,
"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": 84,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.6763-714A>C",
"hgvs_p": null,
"transcript": "NM_015312.4",
"protein_id": "NP_056127.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5005,
"cds_start": -4,
"cds_end": null,
"cds_length": 15018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15568,
"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": 86,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.6763-714A>C",
"hgvs_p": null,
"transcript": "ENST00000264501.8",
"protein_id": "ENSP00000264501.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 5005,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 15896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 85,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "n.7086-714A>C",
"hgvs_p": null,
"transcript": "ENST00000684987.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 19591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 49,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "n.7086-714A>C",
"hgvs_p": null,
"transcript": "ENST00000686075.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 8990,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 85,
"intron_rank": 42,
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"gene_symbol": "BLTP1",
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"hgvs_c": "n.7086-714A>C",
"hgvs_p": null,
"transcript": "ENST00000690536.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 85,
"intron_rank": 42,
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"gene_symbol": "BLTP1",
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"hgvs_c": "n.7086-714A>C",
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"transcript": "ENST00000693334.1",
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},
{
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"strand": true,
"consequences": [
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],
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},
{
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],
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"gene_symbol": "BLTP1",
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},
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],
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"gene_symbol": "BLTP1",
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"hgvs_c": "c.6763-714A>C",
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],
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},
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],
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],
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"hgvs_c": "c.6760-714A>C",
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"gene_symbol": "BLTP1",
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],
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},
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],
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}