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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: 6-25394445-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=25394445&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 25394445,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000329474.7",
"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": 37,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.139-25669A>C",
"hgvs_p": null,
"transcript": "NM_017640.6",
"protein_id": "NP_060110.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": -4,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5485,
"mane_select": "ENST00000329474.7",
"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": 37,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.139-25669A>C",
"hgvs_p": null,
"transcript": "ENST00000329474.7",
"protein_id": "ENSP00000331983.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": -4,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5485,
"mane_select": "NM_017640.6",
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.-111-25669A>C",
"hgvs_p": null,
"transcript": "ENST00000461945.1",
"protein_id": "ENSP00000489403.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1290,
"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": 37,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.139-25669A>C",
"hgvs_p": null,
"transcript": "NM_001173977.2",
"protein_id": "NP_001167448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1365,
"cds_start": -4,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5467,
"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": 37,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.139-25669A>C",
"hgvs_p": null,
"transcript": "ENST00000700669.1",
"protein_id": "ENSP00000515137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1365,
"cds_start": -4,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4365,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CMAHP",
"gene_hgnc_id": null,
"hgvs_c": "n.231-24366T>G",
"hgvs_p": null,
"transcript": "ENST00000643807.1",
"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": 2790,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CMAHP",
"gene_hgnc_id": null,
"hgvs_c": "n.266-892T>G",
"hgvs_p": null,
"transcript": "ENST00000646922.1",
"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,
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"cdna_length": 528,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CMAHP",
"gene_hgnc_id": null,
"hgvs_c": "n.237-24366T>G",
"hgvs_p": null,
"transcript": "ENST00000647050.1",
"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": 581,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CMAHP",
"gene_hgnc_id": null,
"hgvs_c": "n.192-5278T>G",
"hgvs_p": null,
"transcript": "ENST00000801720.1",
"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": 1149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "CMAHP",
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"hgvs_c": "n.237-5278T>G",
"hgvs_p": null,
"transcript": "ENST00000801721.1",
"protein_id": null,
"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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "CMAHP",
"gene_hgnc_id": null,
"hgvs_c": "n.156-24366T>G",
"hgvs_p": null,
"transcript": "ENST00000801722.1",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "CMAHP",
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},
{
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"strand": false,
"consequences": [
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],
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "CARMIL1",
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"hgvs_c": "c.139-25669A>C",
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"transcript": "XM_017011008.2",
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},
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],
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"gene_symbol": "CARMIL1",
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"hgvs_c": "c.139-25669A>C",
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},
{
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"strand": true,
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],
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"intron_rank": 2,
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"gene_symbol": "CARMIL1",
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"hgvs_c": "c.139-25669A>C",
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"transcript": "XM_017011010.2",
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},
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],
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"gene_symbol": "CARMIL1",
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"transcript": "XM_017011011.2",
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},
{
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],
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"gene_symbol": "CARMIL1",
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"hgvs_c": "c.139-25669A>C",
"hgvs_p": null,
"transcript": "XM_017011012.2",
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},
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],
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"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.139-25669A>C",
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"transcript": "XM_024446484.2",
"protein_id": "XP_024302252.1",
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],
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"gene_symbol": "CARMIL1",
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],
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"intron_rank": 2,
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"gene_symbol": "CARMIL1",
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"hgvs_c": "c.139-25669A>C",
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"transcript": "XM_017011013.2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 38,
"intron_rank": 2,
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"gene_symbol": "CARMIL1",
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"hgvs_c": "c.139-25669A>C",
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"transcript": "XM_047418995.1",
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},
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}