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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: 18-46091274-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46091274&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 46091274,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_004046.6",
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.309+408C>G",
"hgvs_p": null,
"transcript": "NM_004046.6",
"protein_id": "NP_004037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": null,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398752.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004046.6"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.309+408C>G",
"hgvs_p": null,
"transcript": "ENST00000398752.11",
"protein_id": "ENSP00000381736.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": null,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004046.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398752.11"
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.309+408C>G",
"hgvs_p": null,
"transcript": "NM_001001937.2",
"protein_id": "NP_001001937.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": null,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001937.2"
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.309+408C>G",
"hgvs_p": null,
"transcript": "ENST00000282050.6",
"protein_id": "ENSP00000282050.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": null,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282050.6"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.309+408C>G",
"hgvs_p": null,
"transcript": "ENST00000858814.1",
"protein_id": "ENSP00000528873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 547,
"cds_start": null,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858814.1"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.285+432C>G",
"hgvs_p": null,
"transcript": "ENST00000966007.1",
"protein_id": "ENSP00000636066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 545,
"cds_start": null,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966007.1"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.279+408C>G",
"hgvs_p": null,
"transcript": "ENST00000939704.1",
"protein_id": "ENSP00000609763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 543,
"cds_start": null,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939704.1"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.309+408C>G",
"hgvs_p": null,
"transcript": "NM_001257334.2",
"protein_id": "NP_001244263.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": null,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257334.2"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.309+408C>G",
"hgvs_p": null,
"transcript": "ENST00000590665.5",
"protein_id": "ENSP00000467037.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": null,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590665.5"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.309+408C>G",
"hgvs_p": null,
"transcript": "ENST00000858818.1",
"protein_id": "ENSP00000528877.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 523,
"cds_start": null,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858818.1"
},
{
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.309+408C>G",
"hgvs_p": null,
"transcript": "ENST00000858812.1",
"protein_id": "ENSP00000528871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858812.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.309+408C>G",
"hgvs_p": null,
"transcript": "ENST00000858817.1",
"protein_id": "ENSP00000528876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858817.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.159+408C>G",
"hgvs_p": null,
"transcript": "NM_001001935.3",
"protein_id": "NP_001001935.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 503,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001935.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 3,
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"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.159+408C>G",
"hgvs_p": null,
"transcript": "NM_001257335.2",
"protein_id": "NP_001244264.1",
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"biotype": "protein_coding",
"feature": "NM_001257335.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.159+408C>G",
"hgvs_p": null,
"transcript": "ENST00000593152.6",
"protein_id": "ENSP00000465477.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000593152.6"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.309+408C>G",
"hgvs_p": null,
"transcript": "ENST00000858815.1",
"protein_id": "ENSP00000528874.1",
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"biotype": "protein_coding",
"feature": "ENST00000858815.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.61-1278C>G",
"hgvs_p": null,
"transcript": "ENST00000939706.1",
"protein_id": "ENSP00000609765.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 470,
"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000939706.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.61-1542C>G",
"hgvs_p": null,
"transcript": "ENST00000858816.1",
"protein_id": "ENSP00000528875.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 412,
"cds_start": null,
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"feature": "ENST00000858816.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 3,
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"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.309+408C>G",
"hgvs_p": null,
"transcript": "ENST00000858813.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.159+408C>G",
"hgvs_p": null,
"transcript": "ENST00000589869.5",
"protein_id": "ENSP00000465497.1",
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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": 4,
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"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.309+408C>G",
"hgvs_p": null,
"transcript": "ENST00000590406.5",
"protein_id": "ENSP00000468458.1",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590406.5"
},
{
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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": 2,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.140-1375C>G",
"hgvs_p": null,
"transcript": "ENST00000589252.5",
"protein_id": "ENSP00000466975.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": null,
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"cds_length": 598,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589252.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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}