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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: 17-15260663-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=15260663&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 15260663,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000312280.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "NM_000304.4",
"protein_id": "NP_000295.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 160,
"cds_start": 65,
"cds_end": null,
"cds_length": 483,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": "ENST00000312280.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "ENST00000312280.9",
"protein_id": "ENSP00000308937.3",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 160,
"cds_start": 65,
"cds_end": null,
"cds_length": 483,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": "NM_000304.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "ENST00000395938.7",
"protein_id": "ENSP00000379269.3",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 217,
"cds_start": 65,
"cds_end": null,
"cds_length": 654,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.-27+4491C>T",
"hgvs_p": null,
"transcript": "ENST00000494511.7",
"protein_id": "ENSP00000462782.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": -4,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "ENST00000674947.1",
"protein_id": "ENSP00000501580.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 217,
"cds_start": 65,
"cds_end": null,
"cds_length": 654,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "ENST00000676329.1",
"protein_id": "ENSP00000501698.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 194,
"cds_start": 65,
"cds_end": null,
"cds_length": 585,
"cdna_start": 99,
"cdna_end": null,
"cdna_length": 1757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "ENST00000675551.1",
"protein_id": "ENSP00000501945.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 165,
"cds_start": 65,
"cds_end": null,
"cds_length": 498,
"cdna_start": 99,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "NM_001281455.2",
"protein_id": "NP_001268384.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 160,
"cds_start": 65,
"cds_end": null,
"cds_length": 483,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "NM_001281456.2",
"protein_id": "NP_001268385.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 160,
"cds_start": 65,
"cds_end": null,
"cds_length": 483,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "NM_153321.3",
"protein_id": "NP_696996.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 160,
"cds_start": 65,
"cds_end": null,
"cds_length": 483,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "NM_153322.3",
"protein_id": "NP_696997.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 160,
"cds_start": 65,
"cds_end": null,
"cds_length": 483,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "ENST00000612492.5",
"protein_id": "ENSP00000484631.1",
"transcript_support_level": 3,
"aa_start": 22,
"aa_end": null,
"aa_length": 160,
"cds_start": 65,
"cds_end": null,
"cds_length": 483,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "ENST00000674651.1",
"protein_id": "ENSP00000501727.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 160,
"cds_start": 65,
"cds_end": null,
"cds_length": 483,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "ENST00000674673.1",
"protein_id": "ENSP00000501804.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
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"cdna_start": 861,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "ENST00000674868.1",
"protein_id": "ENSP00000502835.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 160,
"cds_start": 65,
"cds_end": null,
"cds_length": 483,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "ENST00000675350.1",
"protein_id": "ENSP00000501557.1",
"transcript_support_level": null,
"aa_start": 22,
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"cdna_start": 435,
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"mane_select": null,
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"feature": null
},
{
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"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "ENST00000675808.1",
"protein_id": "ENSP00000502310.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 160,
"cds_start": 65,
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"cds_length": 483,
"cdna_start": 498,
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"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "ENST00000675819.1",
"protein_id": "ENSP00000502018.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 160,
"cds_start": 65,
"cds_end": null,
"cds_length": 483,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "ENST00000675950.1",
"protein_id": "ENSP00000501546.1",
"transcript_support_level": null,
"aa_start": 22,
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"cdna_start": 239,
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"mane_select": null,
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"feature": null
},
{
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"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "ENST00000676221.1",
"protein_id": "ENSP00000502601.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
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"cds_start": 65,
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"cdna_start": 268,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "ENST00000426385.4",
"protein_id": "ENSP00000409824.3",
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"aa_start": 22,
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"aa_length": 125,
"cds_start": 65,
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"cdna_start": 223,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "NM_001330143.2",
"protein_id": "NP_001317072.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 118,
"cds_start": 65,
"cds_end": null,
"cds_length": 357,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Phe",
"transcript": "ENST00000395936.7",
"protein_id": "ENSP00000379268.1",
"transcript_support_level": 3,
"aa_start": 22,
"aa_end": null,
"aa_length": 118,
"cds_start": 65,
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{
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Hereditary liability to pressure palsies|Charcot-Marie-Tooth disease, type IA",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}