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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: 6-135298378-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=135298378&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 135298378,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000265602.11",
"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": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3485+2122C>T",
"hgvs_p": null,
"transcript": "NM_001134831.2",
"protein_id": "NP_001128303.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1196,
"cds_start": -4,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6063,
"mane_select": "ENST00000265602.11",
"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": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3485+2122C>T",
"hgvs_p": null,
"transcript": "ENST00000265602.11",
"protein_id": "ENSP00000265602.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1196,
"cds_start": -4,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6063,
"mane_select": "NM_001134831.2",
"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": 27,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3485+2122C>T",
"hgvs_p": null,
"transcript": "ENST00000367800.8",
"protein_id": "ENSP00000356774.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1196,
"cds_start": -4,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5921,
"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": 28,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3485+2122C>T",
"hgvs_p": null,
"transcript": "ENST00000457866.6",
"protein_id": "ENSP00000388650.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1196,
"cds_start": -4,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5549,
"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": 27,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3485+2122C>T",
"hgvs_p": null,
"transcript": "NM_001134830.2",
"protein_id": "NP_001128302.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1196,
"cds_start": -4,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5916,
"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": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3485+2122C>T",
"hgvs_p": null,
"transcript": "NM_001350503.2",
"protein_id": "NP_001337432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1196,
"cds_start": -4,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3485+2122C>T",
"hgvs_p": null,
"transcript": "NM_017651.5",
"protein_id": "NP_060121.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1196,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5978,
"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": 27,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3485+2122C>T",
"hgvs_p": null,
"transcript": "ENST00000681022.1",
"protein_id": "ENSP00000505121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1196,
"cds_start": -4,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8779,
"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": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3485+2122C>T",
"hgvs_p": null,
"transcript": "ENST00000681340.1",
"protein_id": "ENSP00000505666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1196,
"cds_start": -4,
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"cds_length": 3591,
"cdna_start": null,
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"cdna_length": 5303,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 26,
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"gene_symbol": "AHI1",
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"hgvs_c": "c.3485+2122C>T",
"hgvs_p": null,
"transcript": "ENST00000681365.1",
"protein_id": "ENSP00000506604.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 28,
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"gene_symbol": "AHI1",
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"hgvs_c": "c.3485+2122C>T",
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"transcript": "ENST00000681522.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "AHI1",
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"hgvs_c": "c.3485+2122C>T",
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"transcript": "NM_001350504.2",
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},
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],
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"gene_symbol": "AHI1",
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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": "AHI1",
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"hgvs_c": "n.154+2122C>T",
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],
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],
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"gene_symbol": "AHI1",
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"transcript": "ENST00000679502.1",
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},
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 28,
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"gene_symbol": "AHI1",
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"hgvs_c": "n.*3513+2122C>T",
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"protein_id": "ENSP00000506644.1",
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}