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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: 4-134199984-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=134199984&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 134199984,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001114734.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC4L",
"gene_hgnc_id": 31955,
"hgvs_c": "c.1036A>G",
"hgvs_p": "p.Thr346Ala",
"transcript": "NM_001114734.2",
"protein_id": "NP_001108206.3",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 370,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 4985,
"mane_select": "ENST00000421491.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114734.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC4L",
"gene_hgnc_id": 31955,
"hgvs_c": "c.1036A>G",
"hgvs_p": "p.Thr346Ala",
"transcript": "ENST00000421491.4",
"protein_id": "ENSP00000463233.1",
"transcript_support_level": 3,
"aa_start": 346,
"aa_end": null,
"aa_length": 370,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 4985,
"mane_select": "NM_001114734.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421491.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC4L",
"gene_hgnc_id": 31955,
"hgvs_c": "c.1036A>G",
"hgvs_p": "p.Thr346Ala",
"transcript": "NM_001363585.1",
"protein_id": "NP_001350514.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 370,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 5040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363585.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC4L",
"gene_hgnc_id": 31955,
"hgvs_c": "c.1036A>G",
"hgvs_p": "p.Thr346Ala",
"transcript": "ENST00000884201.1",
"protein_id": "ENSP00000554260.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 370,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 5013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884201.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC4L",
"gene_hgnc_id": 31955,
"hgvs_c": "c.1036A>G",
"hgvs_p": "p.Thr346Ala",
"transcript": "ENST00000925025.1",
"protein_id": "ENSP00000595084.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 370,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 4957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925025.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PABPC4L",
"gene_hgnc_id": 31955,
"hgvs_c": "c.1143+67A>G",
"hgvs_p": null,
"transcript": "XM_047449600.1",
"protein_id": "XP_047305556.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 430,
"cds_start": null,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449600.1"
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251199",
"gene_hgnc_id": null,
"hgvs_c": "n.382-33336A>G",
"hgvs_p": null,
"transcript": "ENST00000654404.1",
"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": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000654404.1"
},
{
"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": "ENSG00000251199",
"gene_hgnc_id": null,
"hgvs_c": "n.415-33336A>G",
"hgvs_p": null,
"transcript": "ENST00000658033.2",
"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": 1027,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000658033.2"
},
{
"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": "ENSG00000251199",
"gene_hgnc_id": null,
"hgvs_c": "n.412-96467A>G",
"hgvs_p": null,
"transcript": "ENST00000658435.1",
"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": 858,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000658435.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251199",
"gene_hgnc_id": null,
"hgvs_c": "n.345-33336A>G",
"hgvs_p": null,
"transcript": "ENST00000661637.1",
"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": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000661637.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251199",
"gene_hgnc_id": null,
"hgvs_c": "n.389-33336A>G",
"hgvs_p": null,
"transcript": "ENST00000663124.1",
"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,
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"cdna_length": 1043,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000663124.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251199",
"gene_hgnc_id": null,
"hgvs_c": "n.421-33336A>G",
"hgvs_p": null,
"transcript": "ENST00000663875.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000663875.1"
},
{
"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": "ENSG00000251199",
"gene_hgnc_id": null,
"hgvs_c": "n.385-33336A>G",
"hgvs_p": null,
"transcript": "ENST00000664397.1",
"protein_id": null,
"transcript_support_level": null,
"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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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000664397.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "ENSG00000251199",
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"hgvs_c": "n.403-33336A>G",
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"transcript": "ENST00000665766.2",
"protein_id": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000665766.2"
},
{
"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,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251199",
"gene_hgnc_id": null,
"hgvs_c": "n.409-33336A>G",
"hgvs_p": null,
"transcript": "ENST00000668013.2",
"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": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000668013.2"
},
{
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"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": "ENSG00000251199",
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"hgvs_c": "n.385-33336A>G",
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"transcript": "ENST00000668641.1",
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"mane_select": null,
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251199",
"gene_hgnc_id": null,
"hgvs_c": "n.396-33336A>G",
"hgvs_p": null,
"transcript": "ENST00000670570.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000670570.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251199",
"gene_hgnc_id": null,
"hgvs_c": "n.399-33336A>G",
"hgvs_p": null,
"transcript": "ENST00000736138.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_length": 1149,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000736138.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251199",
"gene_hgnc_id": null,
"hgvs_c": "n.321-33336A>G",
"hgvs_p": null,
"transcript": "ENST00000736139.1",
"protein_id": null,
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"feature": "ENST00000736139.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251199",
"gene_hgnc_id": null,
"hgvs_c": "n.234-33336A>G",
"hgvs_p": null,
"transcript": "ENST00000736141.1",
"protein_id": null,
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"biotype": "pseudogene",
"feature": "ENST00000736141.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "ENSG00000251199",
"gene_hgnc_id": null,
"hgvs_c": "n.357-33336A>G",
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"transcript": "ENST00000736142.1",
"protein_id": 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": "ENST00000736142.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251199",
"gene_hgnc_id": null,
"hgvs_c": "n.400-33336A>G",
"hgvs_p": null,
"transcript": "ENST00000736143.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1219,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000736143.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251199",
"gene_hgnc_id": null,
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}