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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: X-48511336-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48511336&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48511336,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000326194.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Arg",
"transcript": "NM_203475.3",
"protein_id": "NP_982301.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 461,
"cds_start": 178,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": "ENST00000326194.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000326194.11",
"protein_id": "ENSP00000322304.6",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 461,
"cds_start": 178,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": "NM_203475.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000355961.8",
"protein_id": "ENSP00000348233.4",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 456,
"cds_start": 178,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000367574.9",
"protein_id": "ENSP00000356546.6",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 450,
"cds_start": 178,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000537758.6",
"protein_id": "ENSP00000446401.3",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 450,
"cds_start": 178,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Gly173Arg",
"transcript": "NM_001441333.1",
"protein_id": "NP_001428262.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 569,
"cds_start": 517,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Gly173Arg",
"transcript": "NM_001441334.1",
"protein_id": "NP_001428263.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 563,
"cds_start": 517,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Gly95Arg",
"transcript": "NM_001441335.1",
"protein_id": "NP_001428264.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 485,
"cds_start": 283,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Arg",
"transcript": "NM_203473.3",
"protein_id": "NP_982299.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 456,
"cds_start": 178,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Arg",
"transcript": "NM_203474.1",
"protein_id": "NP_982300.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 455,
"cds_start": 178,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000359882.8",
"protein_id": "ENSP00000352946.4",
"transcript_support_level": 5,
"aa_start": 60,
"aa_end": null,
"aa_length": 455,
"cds_start": 178,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Arg",
"transcript": "NM_022825.4",
"protein_id": "NP_073736.2",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 450,
"cds_start": 178,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000361988.7",
"protein_id": "ENSP00000354978.3",
"transcript_support_level": 5,
"aa_start": 60,
"aa_end": null,
"aa_length": 450,
"cds_start": 178,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000683923.1",
"protein_id": "ENSP00000506737.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 450,
"cds_start": 178,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 2079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000489940.5",
"protein_id": "ENSP00000419212.1",
"transcript_support_level": 4,
"aa_start": 60,
"aa_end": null,
"aa_length": 96,
"cds_start": 178,
"cds_end": null,
"cds_length": 293,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Gly173Arg",
"transcript": "XM_047442357.1",
"protein_id": "XP_047298313.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 574,
"cds_start": 517,
"cds_end": null,
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"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Gly144Arg",
"transcript": "XM_047442360.1",
"protein_id": "XP_047298316.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 545,
"cds_start": 430,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Gly95Arg",
"transcript": "XM_047442362.1",
"protein_id": "XP_047298318.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 496,
"cds_start": 283,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Arg",
"transcript": "XM_047442370.1",
"protein_id": "XP_047298326.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 461,
"cds_start": 178,
"cds_end": null,
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"cdna_start": 281,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Gly173Arg",
"transcript": "XM_047442373.1",
"protein_id": "XP_047298329.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 281,
"cds_start": 517,
"cds_end": null,
"cds_length": 846,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 1108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "n.528G>A",
"hgvs_p": null,
"transcript": "ENST00000486272.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "n.337G>A",
"hgvs_p": null,
"transcript": "ENST00000682661.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "n.360G>A",
"hgvs_p": null,
"transcript": "ENST00000684722.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1 O:1",
"phenotype_combined": "Focal dermal hypoplasia|not provided|Focal dermal hypoplasia;Anophthalmia-microphthalmia syndrome",
"pathogenicity_classification_combined": "Pathogenic",
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}
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}