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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: 1-20865175-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=20865175&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 20865175,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000602326.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2710G>T",
"hgvs_p": "p.Asp904Tyr",
"transcript": "NM_001391906.1",
"protein_id": "NP_001378835.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1641,
"cds_start": 2710,
"cds_end": null,
"cds_length": 4926,
"cdna_start": 3341,
"cdna_end": null,
"cdna_length": 6397,
"mane_select": "ENST00000602326.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2710G>T",
"hgvs_p": "p.Asp904Tyr",
"transcript": "ENST00000602326.6",
"protein_id": "ENSP00000473510.2",
"transcript_support_level": 1,
"aa_start": 904,
"aa_end": null,
"aa_length": 1641,
"cds_start": 2710,
"cds_end": null,
"cds_length": 4926,
"cdna_start": 3341,
"cdna_end": null,
"cdna_length": 6397,
"mane_select": "NM_001391906.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2650G>T",
"hgvs_p": "p.Asp884Tyr",
"transcript": "ENST00000400422.6",
"protein_id": "ENSP00000383274.2",
"transcript_support_level": 1,
"aa_start": 884,
"aa_end": null,
"aa_length": 1621,
"cds_start": 2650,
"cds_end": null,
"cds_length": 4866,
"cdna_start": 3231,
"cdna_end": null,
"cdna_length": 5762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.3472G>T",
"hgvs_p": "p.Asp1158Tyr",
"transcript": "ENST00000693470.1",
"protein_id": "ENSP00000509295.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1895,
"cds_start": 3472,
"cds_end": null,
"cds_length": 5688,
"cdna_start": 3472,
"cdna_end": null,
"cdna_length": 5688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.3109G>T",
"hgvs_p": "p.Asp1037Tyr",
"transcript": "ENST00000634879.2",
"protein_id": "ENSP00000489051.2",
"transcript_support_level": 5,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1774,
"cds_start": 3109,
"cds_end": null,
"cds_length": 5325,
"cdna_start": 3109,
"cdna_end": null,
"cdna_length": 5325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.3028G>T",
"hgvs_p": "p.Asp1010Tyr",
"transcript": "ENST00000685872.1",
"protein_id": "ENSP00000509442.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1747,
"cds_start": 3028,
"cds_end": null,
"cds_length": 5244,
"cdna_start": 3472,
"cdna_end": null,
"cdna_length": 6528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2800G>T",
"hgvs_p": "p.Asp934Tyr",
"transcript": "NM_001391907.1",
"protein_id": "NP_001378836.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1671,
"cds_start": 2800,
"cds_end": null,
"cds_length": 5016,
"cdna_start": 3431,
"cdna_end": null,
"cdna_length": 6487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2707G>T",
"hgvs_p": "p.Asp903Tyr",
"transcript": "ENST00000684485.1",
"protein_id": "ENSP00000507662.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1640,
"cds_start": 2707,
"cds_end": null,
"cds_length": 4923,
"cdna_start": 4785,
"cdna_end": null,
"cdna_length": 7832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2689G>T",
"hgvs_p": "p.Asp897Tyr",
"transcript": "NM_001438678.1",
"protein_id": "NP_001425607.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1634,
"cds_start": 2689,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 3197,
"cdna_end": null,
"cdna_length": 6253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2689G>T",
"hgvs_p": "p.Asp897Tyr",
"transcript": "NM_001438679.1",
"protein_id": "NP_001425608.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1634,
"cds_start": 2689,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 3014,
"cdna_end": null,
"cdna_length": 6070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2686G>T",
"hgvs_p": "p.Asp896Tyr",
"transcript": "NM_001391905.1",
"protein_id": "NP_001378834.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1633,
"cds_start": 2686,
"cds_end": null,
"cds_length": 4902,
"cdna_start": 3194,
"cdna_end": null,
"cdna_length": 6250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2686G>T",
"hgvs_p": "p.Asp896Tyr",
"transcript": "ENST00000688741.1",
"protein_id": "ENSP00000509547.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1633,
"cds_start": 2686,
"cds_end": null,
"cds_length": 4902,
"cdna_start": 3017,
"cdna_end": null,
"cdna_length": 6064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2653G>T",
"hgvs_p": "p.Asp885Tyr",
"transcript": "NM_001391902.1",
"protein_id": "NP_001378831.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1622,
"cds_start": 2653,
"cds_end": null,
"cds_length": 4869,
"cdna_start": 3284,
"cdna_end": null,
"cdna_length": 6340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2653G>T",
"hgvs_p": "p.Asp885Tyr",
"transcript": "NM_001391903.1",
"protein_id": "NP_001378832.1",
"transcript_support_level": null,
"aa_start": 885,
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"cds_start": 2653,
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"cdna_start": 3100,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2653G>T",
"hgvs_p": "p.Asp885Tyr",
"transcript": "NM_001391904.1",
"protein_id": "NP_001378833.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1622,
"cds_start": 2653,
"cds_end": null,
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"cdna_start": 3284,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2650G>T",
"hgvs_p": "p.Asp884Tyr",
"transcript": "NM_001198801.3",
"protein_id": "NP_001185730.1",
"transcript_support_level": null,
"aa_start": 884,
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"cds_start": 2650,
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"cdna_start": 3281,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2563G>T",
"hgvs_p": "p.Asp855Tyr",
"transcript": "NM_001391901.1",
"protein_id": "NP_001378830.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1592,
"cds_start": 2563,
"cds_end": null,
"cds_length": 4779,
"cdna_start": 3194,
"cdna_end": null,
"cdna_length": 6250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2560G>T",
"hgvs_p": "p.Asp854Tyr",
"transcript": "NM_001198802.3",
"protein_id": "NP_001185731.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1591,
"cds_start": 2560,
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"cdna_start": 3191,
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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": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2560G>T",
"hgvs_p": "p.Asp854Tyr",
"transcript": "ENST00000686579.1",
"protein_id": "ENSP00000509941.1",
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2542G>T",
"hgvs_p": "p.Asp848Tyr",
"transcript": "NM_001391892.1",
"protein_id": "NP_001378821.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
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"cds_start": 2542,
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"cdna_start": 3173,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2542G>T",
"hgvs_p": "p.Asp848Tyr",
"transcript": "NM_001391893.1",
"protein_id": "NP_001378822.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1585,
"cds_start": 2542,
"cds_end": null,
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"cdna_start": 2913,
"cdna_end": null,
"cdna_length": 5969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.2542G>T",
"hgvs_p": "p.Asp848Tyr",
"transcript": "NM_001391894.1",
"protein_id": "NP_001378823.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1585,
"cds_start": 2542,
"cds_end": null,
"cds_length": 4758,
"cdna_start": 3050,
"cdna_end": null,
"cdna_length": 6106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}