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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: 2-44339257-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=44339257&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 44339257,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000409411.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.592G>T",
"hgvs_p": "p.Asp198Tyr",
"transcript": "NM_001171613.2",
"protein_id": "NP_001165084.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 638,
"cds_start": 592,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 5829,
"mane_select": "ENST00000409411.6",
"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": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.592G>T",
"hgvs_p": "p.Asp198Tyr",
"transcript": "ENST00000409411.6",
"protein_id": "ENSP00000387095.2",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 638,
"cds_start": 592,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 5829,
"mane_select": "NM_001171613.2",
"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": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Asp287Tyr",
"transcript": "ENST00000260648.10",
"protein_id": "ENSP00000260648.6",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 727,
"cds_start": 859,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1818,
"cdna_end": null,
"cdna_length": 3672,
"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": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Asp287Tyr",
"transcript": "ENST00000409936.5",
"protein_id": "ENSP00000386543.1",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 727,
"cds_start": 859,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 5212,
"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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Asp287Tyr",
"transcript": "ENST00000378511.7",
"protein_id": "ENSP00000367772.3",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 665,
"cds_start": 859,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "n.859G>T",
"hgvs_p": null,
"transcript": "ENST00000425263.5",
"protein_id": "ENSP00000391456.1",
"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": 5657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "n.859G>T",
"hgvs_p": null,
"transcript": "ENST00000426481.5",
"protein_id": "ENSP00000409480.1",
"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": 6273,
"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": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Asp287Tyr",
"transcript": "NM_001171603.1",
"protein_id": "NP_001165074.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 727,
"cds_start": 859,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 6307,
"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": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Asp287Tyr",
"transcript": "NM_001171606.2",
"protein_id": "NP_001165077.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 727,
"cds_start": 859,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 6371,
"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": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Asp287Tyr",
"transcript": "NM_001374275.1",
"protein_id": "NP_001361204.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 727,
"cds_start": 859,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 6046,
"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": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Asp287Tyr",
"transcript": "NM_001374276.1",
"protein_id": "NP_001361205.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 727,
"cds_start": 859,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 6083,
"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": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Asp287Tyr",
"transcript": "NM_006036.4",
"protein_id": "NP_006027.2",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 727,
"cds_start": 859,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1818,
"cdna_end": null,
"cdna_length": 6892,
"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": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Asp287Tyr",
"transcript": "ENST00000409272.5",
"protein_id": "ENSP00000386909.1",
"transcript_support_level": 2,
"aa_start": 287,
"aa_end": null,
"aa_length": 727,
"cds_start": 859,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 3030,
"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": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Asp287Tyr",
"transcript": "ENST00000410081.5",
"protein_id": "ENSP00000386509.1",
"transcript_support_level": 5,
"aa_start": 287,
"aa_end": null,
"aa_length": 727,
"cds_start": 859,
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"cdna_start": 1321,
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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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Asp287Tyr",
"transcript": "NM_001042385.2",
"protein_id": "NP_001035844.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 665,
"cds_start": 859,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 5781,
"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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Asp287Tyr",
"transcript": "NM_001042386.2",
"protein_id": "NP_001035845.1",
"transcript_support_level": null,
"aa_start": 287,
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"cds_start": 859,
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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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Asp287Tyr",
"transcript": "ENST00000378520.7",
"protein_id": "ENSP00000367781.3",
"transcript_support_level": 5,
"aa_start": 287,
"aa_end": null,
"aa_length": 661,
"cds_start": 859,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 2308,
"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": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.592G>T",
"hgvs_p": "p.Asp198Tyr",
"transcript": "NM_001171617.1",
"protein_id": "NP_001165088.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 638,
"cds_start": 592,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 6053,
"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": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.592G>T",
"hgvs_p": "p.Asp198Tyr",
"transcript": "NM_001374277.1",
"protein_id": "NP_001361206.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 638,
"cds_start": 592,
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"cdna_start": 718,
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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": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.592G>T",
"hgvs_p": "p.Asp198Tyr",
"transcript": "ENST00000409957.5",
"protein_id": "ENSP00000387241.1",
"transcript_support_level": 5,
"aa_start": 198,
"aa_end": null,
"aa_length": 638,
"cds_start": 592,
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"cdna_start": 785,
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"cdna_length": 4703,
"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": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.592G>T",
"hgvs_p": "p.Asp198Tyr",
"transcript": "ENST00000541738.5",
"protein_id": "ENSP00000439626.1",
"transcript_support_level": 2,
"aa_start": 198,
"aa_end": null,
"aa_length": 638,
"cds_start": 592,
"cds_end": null,
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"cdna_start": 979,
"cdna_end": null,
"cdna_length": 6049,
"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": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Asp287Tyr",
"transcript": "XM_017005385.2",
"protein_id": "XP_016860874.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 727,
"cds_start": 859,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 6334,
"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": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Asp287Tyr",
"transcript": "XM_047446441.1",
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}
],
"message": null
}