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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: 13-27448480-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=27448480&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 27448480,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000381120.8",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.-71+2029G>C",
"hgvs_p": null,
"transcript": "NM_152912.5",
"protein_id": "NP_690876.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": -4,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 995,
"mane_select": "ENST00000381120.8",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.-71+2029G>C",
"hgvs_p": null,
"transcript": "ENST00000381120.8",
"protein_id": "ENSP00000370512.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": -4,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 995,
"mane_select": "NM_152912.5",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.-71+1662G>C",
"hgvs_p": null,
"transcript": "NM_001166261.2",
"protein_id": "NP_001159733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": -4,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1362,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.-71+1584G>C",
"hgvs_p": null,
"transcript": "NM_001166262.2",
"protein_id": "NP_001159734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": -4,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1440,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.-132+2029G>C",
"hgvs_p": null,
"transcript": "NM_001166263.2",
"protein_id": "NP_001159735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": -4,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1056,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.-113+1372G>C",
"hgvs_p": null,
"transcript": "ENST00000381116.5",
"protein_id": "ENSP00000370508.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": -4,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1104,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "n.55+1662G>C",
"hgvs_p": null,
"transcript": "ENST00000460973.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 785,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "n.68+1584G>C",
"hgvs_p": null,
"transcript": "ENST00000461838.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 947,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "n.58+1662G>C",
"hgvs_p": null,
"transcript": "ENST00000464753.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 296,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "n.190+1372G>C",
"hgvs_p": null,
"transcript": "ENST00000471771.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 877,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "n.79+2029G>C",
"hgvs_p": null,
"transcript": "ENST00000484342.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "n.83+2029G>C",
"hgvs_p": null,
"transcript": "ENST00000485650.5",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "n.147+1372G>C",
"hgvs_p": null,
"transcript": "ENST00000485959.5",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"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,
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "n.101+1584G>C",
"hgvs_p": null,
"transcript": "ENST00000493719.5",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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},
{
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"intron_variant"
],
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"intron_rank": 2,
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"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.-71+1372G>C",
"hgvs_p": null,
"transcript": "XM_006719771.4",
"protein_id": "XP_006719834.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.-52+2029G>C",
"hgvs_p": null,
"transcript": "XM_006719772.5",
"protein_id": "XP_006719835.1",
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},
{
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],
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"gene_symbol": "MTIF3",
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"hgvs_c": "c.-297+2029G>C",
"hgvs_p": null,
"transcript": "XM_011534957.4",
"protein_id": "XP_011533259.1",
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.-132+1584G>C",
"hgvs_p": null,
"transcript": "XM_011534958.4",
"protein_id": "XP_011533260.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.-297+1584G>C",
"hgvs_p": null,
"transcript": "XM_011534959.4",
"protein_id": "XP_011533261.1",
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},
{
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"strand": false,
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],
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "MTIF3",
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},
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "MTIF3",
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"hgvs_c": "c.-132+1662G>C",
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"transcript": "XM_011534961.4",
"protein_id": "XP_011533263.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.-297+1372G>C",
"hgvs_p": null,
"transcript": "XM_011534962.3",
"protein_id": "XP_011533264.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.-297+1662G>C",
"hgvs_p": null,
"transcript": "XM_011534963.4",
"protein_id": "XP_011533265.1",
"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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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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}