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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: 19-48067875-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48067875&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48067875,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001159322.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Asn340Asp",
"transcript": "NM_003706.3",
"protein_id": "NP_003697.2",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 541,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": "ENST00000599921.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003706.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Asn340Asp",
"transcript": "ENST00000599921.6",
"protein_id": "ENSP00000469473.1",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 541,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": "NM_003706.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599921.6"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Asn28Asp",
"transcript": "ENST00000595161.5",
"protein_id": "ENSP00000469528.1",
"transcript_support_level": 3,
"aa_start": 28,
"aa_end": null,
"aa_length": 129,
"cds_start": 82,
"cds_end": null,
"cds_length": 390,
"cdna_start": 83,
"cdna_end": null,
"cdna_length": 438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595161.5"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1075A>G",
"hgvs_p": "p.Asn359Asp",
"transcript": "ENST00000887096.1",
"protein_id": "ENSP00000557155.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 560,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 2508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887096.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1051A>G",
"hgvs_p": "p.Asn351Asp",
"transcript": "ENST00000887093.1",
"protein_id": "ENSP00000557152.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 552,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 2519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887093.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Asn350Asp",
"transcript": "NM_001159322.2",
"protein_id": "NP_001152794.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 551,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159322.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Asn350Asp",
"transcript": "ENST00000599111.5",
"protein_id": "ENSP00000472546.1",
"transcript_support_level": 2,
"aa_start": 350,
"aa_end": null,
"aa_length": 551,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 2458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599111.5"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.997A>G",
"hgvs_p": "p.Asn333Asp",
"transcript": "ENST00000951724.1",
"protein_id": "ENSP00000621783.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 534,
"cds_start": 997,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951724.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Asn340Asp",
"transcript": "NM_001159323.2",
"protein_id": "NP_001152795.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 527,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159323.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Asn340Asp",
"transcript": "ENST00000354276.7",
"protein_id": "ENSP00000346228.2",
"transcript_support_level": 2,
"aa_start": 340,
"aa_end": null,
"aa_length": 527,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354276.7"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.964A>G",
"hgvs_p": "p.Asn322Asp",
"transcript": "ENST00000887089.1",
"protein_id": "ENSP00000557148.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 523,
"cds_start": 964,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887089.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.964A>G",
"hgvs_p": "p.Asn322Asp",
"transcript": "ENST00000887091.1",
"protein_id": "ENSP00000557150.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 523,
"cds_start": 964,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 2461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887091.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Asn313Asp",
"transcript": "ENST00000887090.1",
"protein_id": "ENSP00000557149.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 514,
"cds_start": 937,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887090.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Asn313Asp",
"transcript": "ENST00000951723.1",
"protein_id": "ENSP00000621782.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 514,
"cds_start": 937,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951723.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Asn313Asp",
"transcript": "ENST00000951725.1",
"protein_id": "ENSP00000621784.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 514,
"cds_start": 937,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951725.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.910A>G",
"hgvs_p": "p.Asn304Asp",
"transcript": "ENST00000951719.1",
"protein_id": "ENSP00000621778.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 505,
"cds_start": 910,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951719.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.883A>G",
"hgvs_p": "p.Asn295Asp",
"transcript": "ENST00000887097.1",
"protein_id": "ENSP00000557156.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 496,
"cds_start": 883,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887097.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.883A>G",
"hgvs_p": "p.Asn295Asp",
"transcript": "ENST00000951726.1",
"protein_id": "ENSP00000621785.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 496,
"cds_start": 883,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951726.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Asn293Asp",
"transcript": "ENST00000887092.1",
"protein_id": "ENSP00000557151.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 494,
"cds_start": 877,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 2345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887092.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.856A>G",
"hgvs_p": "p.Asn286Asp",
"transcript": "ENST00000951718.1",
"protein_id": "ENSP00000621777.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 487,
"cds_start": 856,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951718.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.829A>G",
"hgvs_p": "p.Asn277Asp",
"transcript": "ENST00000951722.1",
"protein_id": "ENSP00000621781.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 478,
"cds_start": 829,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951722.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Asn259Asp",
"transcript": "ENST00000951721.1",
"protein_id": "ENSP00000621780.1",
"transcript_support_level": null,
"aa_start": 259,
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"phenotype_combined": "not specified",
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}
],
"message": null
}