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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: 19-12896249-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12896249&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 12896249,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000159.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.680G>C",
"hgvs_p": "p.Arg227Pro",
"transcript": "NM_000159.4",
"protein_id": "NP_000150.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 438,
"cds_start": 680,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222214.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000159.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.680G>C",
"hgvs_p": "p.Arg227Pro",
"transcript": "ENST00000222214.10",
"protein_id": "ENSP00000222214.4",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 438,
"cds_start": 680,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000159.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222214.10"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.680G>C",
"hgvs_p": "p.Arg227Pro",
"transcript": "ENST00000591470.5",
"protein_id": "ENSP00000466845.1",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 438,
"cds_start": 680,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591470.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.680G>C",
"hgvs_p": "p.Arg227Pro",
"transcript": "ENST00000714069.1",
"protein_id": "ENSP00000519360.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 522,
"cds_start": 680,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714069.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.680G>C",
"hgvs_p": "p.Arg227Pro",
"transcript": "ENST00000714068.1",
"protein_id": "ENSP00000519359.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 480,
"cds_start": 680,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714068.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.800G>C",
"hgvs_p": "p.Arg267Pro",
"transcript": "ENST00000940009.1",
"protein_id": "ENSP00000610068.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 478,
"cds_start": 800,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940009.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.728G>C",
"hgvs_p": "p.Arg243Pro",
"transcript": "ENST00000587072.2",
"protein_id": "ENSP00000468584.2",
"transcript_support_level": 5,
"aa_start": 243,
"aa_end": null,
"aa_length": 454,
"cds_start": 728,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587072.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.680G>C",
"hgvs_p": "p.Arg227Pro",
"transcript": "ENST00000591050.2",
"protein_id": "ENSP00000467735.2",
"transcript_support_level": 3,
"aa_start": 227,
"aa_end": null,
"aa_length": 446,
"cds_start": 680,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591050.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.692G>C",
"hgvs_p": "p.Arg231Pro",
"transcript": "ENST00000909380.1",
"protein_id": "ENSP00000579439.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 442,
"cds_start": 692,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909380.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.680G>C",
"hgvs_p": "p.Arg227Pro",
"transcript": "ENST00000714067.1",
"protein_id": "ENSP00000519358.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 441,
"cds_start": 680,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714067.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.680G>C",
"hgvs_p": "p.Arg227Pro",
"transcript": "ENST00000714070.1",
"protein_id": "ENSP00000519361.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 439,
"cds_start": 680,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714070.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.680G>C",
"hgvs_p": "p.Arg227Pro",
"transcript": "ENST00000909379.1",
"protein_id": "ENSP00000579438.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 438,
"cds_start": 680,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909379.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.674G>C",
"hgvs_p": "p.Arg225Pro",
"transcript": "ENST00000909381.1",
"protein_id": "ENSP00000579440.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 436,
"cds_start": 674,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909381.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.674G>C",
"hgvs_p": "p.Arg225Pro",
"transcript": "ENST00000909385.1",
"protein_id": "ENSP00000579444.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 436,
"cds_start": 674,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909385.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.680G>C",
"hgvs_p": "p.Arg227Pro",
"transcript": "ENST00000590472.6",
"protein_id": "ENSP00000468625.3",
"transcript_support_level": 5,
"aa_start": 227,
"aa_end": null,
"aa_length": 433,
"cds_start": 680,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590472.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.680G>C",
"hgvs_p": "p.Arg227Pro",
"transcript": "ENST00000714075.1",
"protein_id": "ENSP00000519366.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 429,
"cds_start": 680,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714075.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.680G>C",
"hgvs_p": "p.Arg227Pro",
"transcript": "NM_013976.5",
"protein_id": "NP_039663.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 428,
"cds_start": 680,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013976.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.680G>C",
"hgvs_p": "p.Arg227Pro",
"transcript": "ENST00000714073.1",
"protein_id": "ENSP00000519364.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 428,
"cds_start": 680,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714073.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.644G>C",
"hgvs_p": "p.Arg215Pro",
"transcript": "ENST00000588905.6",
"protein_id": "ENSP00000465770.2",
"transcript_support_level": 5,
"aa_start": 215,
"aa_end": null,
"aa_length": 426,
"cds_start": 644,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588905.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.644G>C",
"hgvs_p": "p.Arg215Pro",
"transcript": "ENST00000909383.1",
"protein_id": "ENSP00000579442.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 426,
"cds_start": 644,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909383.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.644G>C",
"hgvs_p": "p.Arg215Pro",
"transcript": "ENST00000909387.1",
"protein_id": "ENSP00000579446.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 426,
"cds_start": 644,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909387.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.611G>C",
"hgvs_p": "p.Arg204Pro",
"transcript": "ENST00000954317.1",
"protein_id": "ENSP00000624376.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 415,
"cds_start": 611,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954317.1"
},
{
"aa_ref": "R",
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}
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}