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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: 1-7965425-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=7965425&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 7965425,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_007262.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "NM_007262.5",
"protein_id": "NP_009193.2",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 189,
"cds_start": 192,
"cds_end": null,
"cds_length": 570,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": "ENST00000338639.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007262.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000338639.10",
"protein_id": "ENSP00000340278.5",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 189,
"cds_start": 192,
"cds_end": null,
"cds_length": 570,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": "NM_007262.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338639.10"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000493678.5",
"protein_id": "ENSP00000418770.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 189,
"cds_start": 192,
"cds_end": null,
"cds_length": 570,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493678.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000923305.1",
"protein_id": "ENSP00000593364.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 201,
"cds_start": 192,
"cds_end": null,
"cds_length": 606,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923305.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "NM_001123377.2",
"protein_id": "NP_001116849.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 189,
"cds_start": 192,
"cds_end": null,
"cds_length": 570,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 1069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001123377.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000377488.5",
"protein_id": "ENSP00000366708.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 189,
"cds_start": 192,
"cds_end": null,
"cds_length": 570,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377488.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000377491.5",
"protein_id": "ENSP00000366711.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 189,
"cds_start": 192,
"cds_end": null,
"cds_length": 570,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377491.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000872623.1",
"protein_id": "ENSP00000542682.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 189,
"cds_start": 192,
"cds_end": null,
"cds_length": 570,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 1096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872623.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000872625.1",
"protein_id": "ENSP00000542684.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 189,
"cds_start": 192,
"cds_end": null,
"cds_length": 570,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872625.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000872628.1",
"protein_id": "ENSP00000542687.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 189,
"cds_start": 192,
"cds_end": null,
"cds_length": 570,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872628.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000872631.1",
"protein_id": "ENSP00000542690.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 189,
"cds_start": 192,
"cds_end": null,
"cds_length": 570,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872631.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000923297.1",
"protein_id": "ENSP00000593356.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 189,
"cds_start": 192,
"cds_end": null,
"cds_length": 570,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923297.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000923298.1",
"protein_id": "ENSP00000593357.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 189,
"cds_start": 192,
"cds_end": null,
"cds_length": 570,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 1231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923298.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000923299.1",
"protein_id": "ENSP00000593358.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 189,
"cds_start": 192,
"cds_end": null,
"cds_length": 570,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 1202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923299.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000493373.5",
"protein_id": "ENSP00000465404.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 188,
"cds_start": 192,
"cds_end": null,
"cds_length": 568,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493373.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.186G>C",
"hgvs_p": "p.Glu62Asp",
"transcript": "ENST00000923300.1",
"protein_id": "ENSP00000593359.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 187,
"cds_start": 186,
"cds_end": null,
"cds_length": 564,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923300.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000923302.1",
"protein_id": "ENSP00000593361.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 187,
"cds_start": 192,
"cds_end": null,
"cds_length": 564,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923302.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.186G>C",
"hgvs_p": "p.Glu62Asp",
"transcript": "ENST00000923306.1",
"protein_id": "ENSP00000593365.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 187,
"cds_start": 186,
"cds_end": null,
"cds_length": 564,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923306.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000923303.1",
"protein_id": "ENSP00000593362.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 184,
"cds_start": 192,
"cds_end": null,
"cds_length": 555,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923303.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.168G>C",
"hgvs_p": "p.Glu56Asp",
"transcript": "ENST00000923310.1",
"protein_id": "ENSP00000593369.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 181,
"cds_start": 168,
"cds_end": null,
"cds_length": 546,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923310.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000923304.1",
"protein_id": "ENSP00000593363.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 179,
"cds_start": 192,
"cds_end": null,
"cds_length": 540,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923304.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Autosomal recessive early-onset Parkinson disease 7",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}