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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: 4-53379088-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=53379088&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 53379088,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000337488.11",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "NM_030917.4",
"protein_id": "NP_112179.2",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 594,
"cds_start": 101,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 3396,
"mane_select": "ENST00000337488.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "ENST00000337488.11",
"protein_id": "ENSP00000336752.6",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 594,
"cds_start": 101,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 3396,
"mane_select": "NM_030917.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282278",
"gene_hgnc_id": null,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "ENST00000507166.5",
"protein_id": "ENSP00000423325.1",
"transcript_support_level": 2,
"aa_start": 34,
"aa_end": null,
"aa_length": 849,
"cds_start": 101,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 101,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.1286A>T",
"hgvs_p": null,
"transcript": "ENST00000505125.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3180,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.86-137A>T",
"hgvs_p": null,
"transcript": "ENST00000306932.10",
"protein_id": "ENSP00000302993.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": -4,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1878,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.86-137A>T",
"hgvs_p": null,
"transcript": "ENST00000507922.5",
"protein_id": "ENSP00000425456.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 378,
"cds_start": -4,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "NM_001376744.1",
"protein_id": "NP_001363673.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 606,
"cds_start": 101,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 3432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "NM_001376745.1",
"protein_id": "NP_001363674.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 603,
"cds_start": 101,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "ENST00000703454.1",
"protein_id": "ENSP00000515305.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 603,
"cds_start": 101,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 5489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "NM_001376746.1",
"protein_id": "NP_001363675.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 601,
"cds_start": 101,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 3417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "ENST00000703484.1",
"protein_id": "ENSP00000515334.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 601,
"cds_start": 101,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 5421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "NM_001376747.1",
"protein_id": "NP_001363676.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 595,
"cds_start": 101,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "ENST00000703485.1",
"protein_id": "ENSP00000515335.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 595,
"cds_start": 101,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "ENST00000703489.1",
"protein_id": "ENSP00000515339.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 594,
"cds_start": 101,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 6910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "NM_001376748.1",
"protein_id": "NP_001363677.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 583,
"cds_start": 101,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 3363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "ENST00000703486.1",
"protein_id": "ENSP00000515336.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 583,
"cds_start": 101,
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"cdna_start": 299,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "NM_001376749.1",
"protein_id": "NP_001363678.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 580,
"cds_start": 101,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 3354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "ENST00000703453.1",
"protein_id": "ENSP00000515304.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 580,
"cds_start": 101,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 5420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "NM_001376751.1",
"protein_id": "NP_001363680.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 578,
"cds_start": 101,
"cds_end": null,
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"cdna_start": 299,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "NM_001376752.1",
"protein_id": "NP_001363681.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 578,
"cds_start": 101,
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"cdna_start": 299,
"cdna_end": null,
"cdna_length": 3348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "ENST00000703481.1",
"protein_id": "ENSP00000515331.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 578,
"cds_start": 101,
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"cds_length": 1737,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 5177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.His34Leu",
"transcript": "ENST00000703483.1",
"protein_id": "ENSP00000515333.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 578,
"cds_start": 101,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 5352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.101A>T",
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{
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}