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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: 5-142598678-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=142598678&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 142598678,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000337706.7",
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FGF1",
"gene_hgnc_id": 3665,
"hgvs_c": "c.273+2024T>C",
"hgvs_p": null,
"transcript": "NM_000800.5",
"protein_id": "NP_000791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3748,
"mane_select": "ENST00000337706.7",
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FGF1",
"gene_hgnc_id": 3665,
"hgvs_c": "c.273+2024T>C",
"hgvs_p": null,
"transcript": "ENST00000337706.7",
"protein_id": "ENSP00000338548.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3748,
"mane_select": "NM_000800.5",
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FGF1",
"gene_hgnc_id": 3665,
"hgvs_c": "c.273+2024T>C",
"hgvs_p": null,
"transcript": "ENST00000359370.10",
"protein_id": "ENSP00000352329.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3660,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FGF1",
"gene_hgnc_id": 3665,
"hgvs_c": "c.273+2024T>C",
"hgvs_p": null,
"transcript": "ENST00000612258.4",
"protein_id": "ENSP00000479024.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3805,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FGF1",
"gene_hgnc_id": 3665,
"hgvs_c": "c.273+2024T>C",
"hgvs_p": null,
"transcript": "ENST00000621536.4",
"protein_id": "ENSP00000480791.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FGF1",
"gene_hgnc_id": 3665,
"hgvs_c": "n.738+2024T>C",
"hgvs_p": null,
"transcript": "ENST00000494344.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 992,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FGF1",
"gene_hgnc_id": 3665,
"hgvs_c": "c.273+2024T>C",
"hgvs_p": null,
"transcript": "NM_001144892.3",
"protein_id": "NP_001138364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
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"cdna_length": 3652,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FGF1",
"gene_hgnc_id": 3665,
"hgvs_c": "c.273+2024T>C",
"hgvs_p": null,
"transcript": "NM_001144934.2",
"protein_id": "NP_001138406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3817,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FGF1",
"gene_hgnc_id": 3665,
"hgvs_c": "c.273+2024T>C",
"hgvs_p": null,
"transcript": "NM_001144935.2",
"protein_id": "NP_001138407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "FGF1",
"gene_hgnc_id": 3665,
"hgvs_c": "c.273+2024T>C",
"hgvs_p": null,
"transcript": "NM_001257205.1",
"protein_id": "NP_001244134.1",
"transcript_support_level": null,
"aa_start": null,
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"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": 5,
"intron_rank": 4,
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"gene_symbol": "FGF1",
"gene_hgnc_id": 3665,
"hgvs_c": "c.273+2024T>C",
"hgvs_p": null,
"transcript": "NM_001257207.2",
"protein_id": "NP_001244136.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "FGF1",
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},
{
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"consequences": [
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],
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"transcript": "NM_001257209.1",
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},
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],
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"gene_symbol": "FGF1",
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},
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],
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},
{
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],
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"gene_symbol": "FGF1",
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"hgvs_c": "c.273+2024T>C",
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},
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],
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},
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],
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"gene_symbol": "FGF1",
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"hgvs_c": "c.273+2024T>C",
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"transcript": "NM_001354954.2",
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},
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],
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"intron_rank": 4,
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"gene_symbol": "FGF1",
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"hgvs_c": "c.273+2024T>C",
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"transcript": "NM_001354955.2",
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],
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],
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],
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"gene_symbol": "FGF1",
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"hgvs_c": "c.273+2024T>C",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FGF1",
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"hgvs_c": "c.273+2024T>C",
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"transcript": "ENST00000441680.6",
"protein_id": "ENSP00000404742.2",
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},
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