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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: 1-108897056-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=108897056&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 108897056,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000264126.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "NM_013296.5",
"protein_id": "NP_037428.3",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 684,
"cds_start": 249,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 7152,
"mane_select": "ENST00000264126.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "ENST00000264126.9",
"protein_id": "ENSP00000264126.3",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 684,
"cds_start": 249,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 7152,
"mane_select": "NM_013296.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.300A>C",
"hgvs_p": "p.Glu100Asp",
"transcript": "ENST00000674914.1",
"protein_id": "ENSP00000501579.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 701,
"cds_start": 300,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.300A>C",
"hgvs_p": "p.Glu100Asp",
"transcript": "ENST00000675087.1",
"protein_id": "ENSP00000502020.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 701,
"cds_start": 300,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "NM_001321038.2",
"protein_id": "NP_001307967.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 684,
"cds_start": 249,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 6920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "NM_001321039.3",
"protein_id": "NP_001307968.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 684,
"cds_start": 249,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 5633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "ENST00000406462.6",
"protein_id": "ENSP00000385510.1",
"transcript_support_level": 5,
"aa_start": 83,
"aa_end": null,
"aa_length": 684,
"cds_start": 249,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 7433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "ENST00000446797.2",
"protein_id": "ENSP00000392138.2",
"transcript_support_level": 4,
"aa_start": 83,
"aa_end": null,
"aa_length": 684,
"cds_start": 249,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "ENST00000642355.1",
"protein_id": "ENSP00000496104.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 684,
"cds_start": 249,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 5609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "ENST00000645164.2",
"protein_id": "ENSP00000496756.2",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 684,
"cds_start": 249,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 2806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "ENST00000676184.1",
"protein_id": "ENSP00000502178.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 684,
"cds_start": 249,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "ENST00000441735.2",
"protein_id": "ENSP00000390629.2",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 627,
"cds_start": 249,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "ENST00000675086.1",
"protein_id": "ENSP00000502476.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 625,
"cds_start": 249,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000674700.1",
"protein_id": "ENSP00000501743.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 519,
"cds_start": 192,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "ENST00000435987.5",
"protein_id": "ENSP00000408664.1",
"transcript_support_level": 3,
"aa_start": 83,
"aa_end": null,
"aa_length": 212,
"cds_start": 249,
"cds_end": null,
"cds_length": 640,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "ENST00000643094.1",
"protein_id": "ENSP00000495317.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 92,
"cds_start": 249,
"cds_end": null,
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"cdna_start": 769,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "XM_011541302.4",
"protein_id": "XP_011539604.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 684,
"cds_start": 249,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 7396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "XM_017001097.3",
"protein_id": "XP_016856586.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 684,
"cds_start": 249,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 7302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "XM_017001098.3",
"protein_id": "XP_016856587.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 684,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "XM_047418723.1",
"protein_id": "XP_047274679.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 684,
"cds_start": 249,
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"cdna_start": 1135,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
"transcript": "XM_047418724.1",
"protein_id": "XP_047274680.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 684,
"cds_start": 249,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 7164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "XM_006710589.4",
"protein_id": "XP_006710652.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 665,
"cds_start": 192,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.249A>C",
"hgvs_p": "p.Glu83Asp",
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}
],
"message": null
}