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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: X-153953469-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153953469&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 153953469,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001440843.1",
"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": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.4497+138C>G",
"hgvs_p": null,
"transcript": "NM_005334.3",
"protein_id": "NP_005325.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2035,
"cds_start": null,
"cds_end": null,
"cds_length": 6108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310441.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005334.3"
},
{
"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": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.4497+138C>G",
"hgvs_p": null,
"transcript": "ENST00000310441.12",
"protein_id": "ENSP00000309555.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2035,
"cds_start": null,
"cds_end": null,
"cds_length": 6108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005334.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310441.12"
},
{
"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": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.4497+138C>G",
"hgvs_p": null,
"transcript": "NM_001440843.1",
"protein_id": "NP_001427772.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2082,
"cds_start": null,
"cds_end": null,
"cds_length": 6249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440843.1"
},
{
"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": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.4497+138C>G",
"hgvs_p": null,
"transcript": "ENST00000925202.1",
"protein_id": "ENSP00000595261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2082,
"cds_start": null,
"cds_end": null,
"cds_length": 6249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925202.1"
},
{
"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": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.4497+138C>G",
"hgvs_p": null,
"transcript": "NM_001410705.1",
"protein_id": "NP_001397634.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2080,
"cds_start": null,
"cds_end": null,
"cds_length": 6243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410705.1"
},
{
"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": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.4497+138C>G",
"hgvs_p": null,
"transcript": "ENST00000369984.4",
"protein_id": "ENSP00000359001.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2080,
"cds_start": null,
"cds_end": null,
"cds_length": 6243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369984.4"
},
{
"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": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.4497+138C>G",
"hgvs_p": null,
"transcript": "NM_001440844.1",
"protein_id": "NP_001427773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2079,
"cds_start": null,
"cds_end": null,
"cds_length": 6240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440844.1"
},
{
"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": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.4497+138C>G",
"hgvs_p": null,
"transcript": "NM_001440845.1",
"protein_id": "NP_001427774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2079,
"cds_start": null,
"cds_end": null,
"cds_length": 6240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440845.1"
},
{
"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": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.4497+138C>G",
"hgvs_p": null,
"transcript": "ENST00000925198.1",
"protein_id": "ENSP00000595257.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2079,
"cds_start": null,
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"cds_length": 6240,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925198.1"
},
{
"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": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.4497+138C>G",
"hgvs_p": null,
"transcript": "NM_001440846.1",
"protein_id": "NP_001427775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2078,
"cds_start": null,
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"cds_length": 6237,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440846.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 18,
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"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.4497+138C>G",
"hgvs_p": null,
"transcript": "ENST00000925201.1",
"protein_id": "ENSP00000595260.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "HCFC1",
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"transcript": "ENST00000925204.1",
"protein_id": "ENSP00000595263.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "HCFC1",
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"hgvs_c": "c.4497+138C>G",
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"transcript": "NM_001440847.1",
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"mane_select": null,
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},
{
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],
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"gene_symbol": "HCFC1",
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},
{
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],
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"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.4497+138C>G",
"hgvs_p": null,
"transcript": "NM_001440848.1",
"protein_id": "NP_001427777.1",
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"feature": "NM_001440848.1"
},
{
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],
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"gene_symbol": "HCFC1",
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"hgvs_c": "c.4497+138C>G",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.4497+138C>G",
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"transcript": "NM_001440849.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.4497+138C>G",
"hgvs_p": null,
"transcript": "ENST00000925200.1",
"protein_id": "ENSP00000595259.1",
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},
{
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],
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"hgvs_c": "c.4476+138C>G",
"hgvs_p": null,
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},
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],
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"hgvs_c": "c.4299+138C>G",
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},
{
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],
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"biotype": "protein_coding",
"feature": "NM_001440851.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.4299+138C>G",
"hgvs_p": null,
"transcript": "ENST00000925199.1",
"protein_id": "ENSP00000595258.1",
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"feature": "ENST00000925199.1"
},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 15,
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}