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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: 10-71819762-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=71819762&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 71819762,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001042465.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1144T>G",
"hgvs_p": "p.Cys382Gly",
"transcript": "NM_002778.4",
"protein_id": "NP_002769.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 524,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394936.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002778.4"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": true,
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1144T>G",
"hgvs_p": "p.Cys382Gly",
"transcript": "ENST00000394936.8",
"protein_id": "ENSP00000378394.3",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 524,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002778.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394936.8"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1276T>G",
"hgvs_p": "p.Cys426Gly",
"transcript": "ENST00000870508.1",
"protein_id": "ENSP00000540567.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 568,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870508.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1207T>G",
"hgvs_p": "p.Cys403Gly",
"transcript": "ENST00000931479.1",
"protein_id": "ENSP00000601538.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 545,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931479.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1177T>G",
"hgvs_p": "p.Cys393Gly",
"transcript": "ENST00000870507.1",
"protein_id": "ENSP00000540566.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 535,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870507.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1168T>G",
"hgvs_p": "p.Cys390Gly",
"transcript": "ENST00000870519.1",
"protein_id": "ENSP00000540578.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 532,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870519.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1165T>G",
"hgvs_p": "p.Cys389Gly",
"transcript": "ENST00000870506.1",
"protein_id": "ENSP00000540565.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 531,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870506.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1144T>G",
"hgvs_p": "p.Cys382Gly",
"transcript": "ENST00000870505.1",
"protein_id": "ENSP00000540564.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 530,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870505.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1153T>G",
"hgvs_p": "p.Cys385Gly",
"transcript": "NM_001042465.3",
"protein_id": "NP_001035930.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 527,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042465.3"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1150T>G",
"hgvs_p": "p.Cys384Gly",
"transcript": "NM_001042466.3",
"protein_id": "NP_001035931.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 526,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042466.3"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1141T>G",
"hgvs_p": "p.Cys381Gly",
"transcript": "ENST00000870500.1",
"protein_id": "ENSP00000540559.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 523,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870500.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1141T>G",
"hgvs_p": "p.Cys381Gly",
"transcript": "ENST00000870512.1",
"protein_id": "ENSP00000540571.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 523,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870512.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1141T>G",
"hgvs_p": "p.Cys381Gly",
"transcript": "ENST00000870517.1",
"protein_id": "ENSP00000540576.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 523,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870517.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1138T>G",
"hgvs_p": "p.Cys380Gly",
"transcript": "ENST00000870502.1",
"protein_id": "ENSP00000540561.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 522,
"cds_start": 1138,
"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": "ENST00000870502.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1138T>G",
"hgvs_p": "p.Cys380Gly",
"transcript": "ENST00000870503.1",
"protein_id": "ENSP00000540562.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 522,
"cds_start": 1138,
"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": "ENST00000870503.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1135T>G",
"hgvs_p": "p.Cys379Gly",
"transcript": "ENST00000931480.1",
"protein_id": "ENSP00000601539.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 521,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931480.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1144T>G",
"hgvs_p": "p.Cys382Gly",
"transcript": "ENST00000958165.1",
"protein_id": "ENSP00000628224.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 521,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958165.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1135T>G",
"hgvs_p": "p.Cys379Gly",
"transcript": "ENST00000958167.1",
"protein_id": "ENSP00000628226.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 521,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958167.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1123T>G",
"hgvs_p": "p.Cys375Gly",
"transcript": "ENST00000958166.1",
"protein_id": "ENSP00000628225.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 517,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958166.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1144T>G",
"hgvs_p": "p.Cys382Gly",
"transcript": "ENST00000870510.1",
"protein_id": "ENSP00000540569.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 515,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870510.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1114T>G",
"hgvs_p": "p.Cys372Gly",
"transcript": "ENST00000870511.1",
"protein_id": "ENSP00000540570.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 514,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870511.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "PSAP",
"gene_hgnc_id": 9498,
"hgvs_c": "c.1144T>G",
"hgvs_p": "p.Cys382Gly",
"transcript": "ENST00000931477.1",
"protein_id": "ENSP00000601536.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 511,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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}
],
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}