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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: 2-241897239-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241897239&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 241897239,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001382368.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM240C",
"gene_hgnc_id": 54200,
"hgvs_c": "c.108C>A",
"hgvs_p": "p.His36Gln",
"transcript": "NM_001382368.1",
"protein_id": "NP_001369297.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 95,
"cds_start": 108,
"cds_end": null,
"cds_length": 288,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 608,
"mane_select": "ENST00000404031.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382368.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM240C",
"gene_hgnc_id": 54200,
"hgvs_c": "c.108C>A",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000404031.6",
"protein_id": "ENSP00000490626.1",
"transcript_support_level": 3,
"aa_start": 36,
"aa_end": null,
"aa_length": 95,
"cds_start": 108,
"cds_end": null,
"cds_length": 288,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 608,
"mane_select": "NM_001382368.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404031.6"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM240C",
"gene_hgnc_id": 54200,
"hgvs_c": "c.93C>A",
"hgvs_p": "p.His31Gln",
"transcript": "NM_001382369.1",
"protein_id": "NP_001369298.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 90,
"cds_start": 93,
"cds_end": null,
"cds_length": 273,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382369.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM240C",
"gene_hgnc_id": 54200,
"hgvs_c": "c.93C>A",
"hgvs_p": "p.His31Gln",
"transcript": "NM_001382370.1",
"protein_id": "NP_001369299.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 90,
"cds_start": 93,
"cds_end": null,
"cds_length": 273,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382370.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM240C",
"gene_hgnc_id": 54200,
"hgvs_c": "c.93C>A",
"hgvs_p": "p.His31Gln",
"transcript": "ENST00000401641.2",
"protein_id": "ENSP00000490196.1",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 90,
"cds_start": 93,
"cds_end": null,
"cds_length": 273,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401641.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM240C",
"gene_hgnc_id": 54200,
"hgvs_c": "c.93C>A",
"hgvs_p": "p.His31Gln",
"transcript": "ENST00000452112.5",
"protein_id": "ENSP00000490703.2",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 90,
"cds_start": 93,
"cds_end": null,
"cds_length": 273,
"cdna_start": 120,
"cdna_end": null,
"cdna_length": 524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452112.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01237",
"gene_hgnc_id": 49793,
"hgvs_c": "n.189+14604G>T",
"hgvs_p": null,
"transcript": "ENST00000415434.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000415434.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01237",
"gene_hgnc_id": 49793,
"hgvs_c": "n.258+14604G>T",
"hgvs_p": null,
"transcript": "ENST00000429947.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 470,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000429947.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01237",
"gene_hgnc_id": 49793,
"hgvs_c": "n.192+14604G>T",
"hgvs_p": null,
"transcript": "ENST00000430555.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 843,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000430555.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01237",
"gene_hgnc_id": 49793,
"hgvs_c": "n.184+14604G>T",
"hgvs_p": null,
"transcript": "ENST00000457686.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 586,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000457686.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01237",
"gene_hgnc_id": 49793,
"hgvs_c": "n.184+14604G>T",
"hgvs_p": null,
"transcript": "ENST00000685688.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000685688.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01237",
"gene_hgnc_id": 49793,
"hgvs_c": "n.253+14604G>T",
"hgvs_p": null,
"transcript": "ENST00000687670.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000687670.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC01237",
"gene_hgnc_id": 49793,
"hgvs_c": "n.211+14604G>T",
"hgvs_p": null,
"transcript": "ENST00000690485.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1168,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000690485.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01237",
"gene_hgnc_id": 49793,
"hgvs_c": "n.184+14604G>T",
"hgvs_p": null,
"transcript": "ENST00000691382.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 896,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000691382.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01237",
"gene_hgnc_id": 49793,
"hgvs_c": "n.188+14604G>T",
"hgvs_p": null,
"transcript": "ENST00000693709.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1028,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000693709.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01237",
"gene_hgnc_id": 49793,
"hgvs_c": "n.191+14604G>T",
"hgvs_p": null,
"transcript": "ENST00000701629.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1309,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000701629.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01237",
"gene_hgnc_id": 49793,
"hgvs_c": "n.191+14604G>T",
"hgvs_p": null,
"transcript": "ENST00000702061.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000702061.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01237",
"gene_hgnc_id": 49793,
"hgvs_c": "n.295+14604G>T",
"hgvs_p": null,
"transcript": "ENST00000715650.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000715650.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01237",
"gene_hgnc_id": 49793,
"hgvs_c": "n.186+14604G>T",
"hgvs_p": null,
"transcript": "ENST00000796994.1",
"protein_id": null,
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"aa_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000796994.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01237",
"gene_hgnc_id": 49793,
"hgvs_c": "n.188+14604G>T",
"hgvs_p": null,
"transcript": "ENST00000796995.1",
"protein_id": null,
"transcript_support_level": null,
"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,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000796995.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01237",
"gene_hgnc_id": 49793,
"hgvs_c": "n.202+14604G>T",
"hgvs_p": null,
"transcript": "ENST00000796996.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000796996.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01237",
"gene_hgnc_id": 49793,
"hgvs_c": "n.188+14604G>T",
"hgvs_p": null,
"transcript": "ENST00000796997.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000796997.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01237",
"gene_hgnc_id": 49793,
"hgvs_c": "n.189+14604G>T",
"hgvs_p": null,
"transcript": "ENST00000796998.1",
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}