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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: 1-7984981-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=7984981&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 7984981,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_007262.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Leu166Pro",
"transcript": "NM_007262.5",
"protein_id": "NP_009193.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 189,
"cds_start": 497,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338639.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007262.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Leu166Pro",
"transcript": "ENST00000338639.10",
"protein_id": "ENSP00000340278.5",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 189,
"cds_start": 497,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007262.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338639.10"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Leu166Pro",
"transcript": "ENST00000493678.5",
"protein_id": "ENSP00000418770.1",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 189,
"cds_start": 497,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493678.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.533T>C",
"hgvs_p": "p.Leu178Pro",
"transcript": "ENST00000923305.1",
"protein_id": "ENSP00000593364.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 533,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923305.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Leu166Pro",
"transcript": "NM_001123377.2",
"protein_id": "NP_001116849.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 189,
"cds_start": 497,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001123377.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Leu166Pro",
"transcript": "ENST00000377488.5",
"protein_id": "ENSP00000366708.1",
"transcript_support_level": 3,
"aa_start": 166,
"aa_end": null,
"aa_length": 189,
"cds_start": 497,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377488.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Leu166Pro",
"transcript": "ENST00000377491.5",
"protein_id": "ENSP00000366711.1",
"transcript_support_level": 3,
"aa_start": 166,
"aa_end": null,
"aa_length": 189,
"cds_start": 497,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377491.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Leu166Pro",
"transcript": "ENST00000872623.1",
"protein_id": "ENSP00000542682.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 189,
"cds_start": 497,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872623.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Leu166Pro",
"transcript": "ENST00000872625.1",
"protein_id": "ENSP00000542684.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 189,
"cds_start": 497,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872625.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Leu166Pro",
"transcript": "ENST00000872628.1",
"protein_id": "ENSP00000542687.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 189,
"cds_start": 497,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872628.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Leu166Pro",
"transcript": "ENST00000872631.1",
"protein_id": "ENSP00000542690.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 189,
"cds_start": 497,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872631.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Leu166Pro",
"transcript": "ENST00000923297.1",
"protein_id": "ENSP00000593356.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 189,
"cds_start": 497,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923297.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Leu166Pro",
"transcript": "ENST00000923298.1",
"protein_id": "ENSP00000593357.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 189,
"cds_start": 497,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923298.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Leu166Pro",
"transcript": "ENST00000923299.1",
"protein_id": "ENSP00000593358.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 189,
"cds_start": 497,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923299.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Leu166Pro",
"transcript": "ENST00000493373.5",
"protein_id": "ENSP00000465404.1",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 188,
"cds_start": 497,
"cds_end": null,
"cds_length": 568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493373.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Leu164Pro",
"transcript": "ENST00000923300.1",
"protein_id": "ENSP00000593359.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 187,
"cds_start": 491,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923300.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Leu164Pro",
"transcript": "ENST00000923302.1",
"protein_id": "ENSP00000593361.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 187,
"cds_start": 491,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923302.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Leu164Pro",
"transcript": "ENST00000923306.1",
"protein_id": "ENSP00000593365.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 187,
"cds_start": 491,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923306.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.482T>C",
"hgvs_p": "p.Leu161Pro",
"transcript": "ENST00000923303.1",
"protein_id": "ENSP00000593362.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 184,
"cds_start": 482,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923303.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.473T>C",
"hgvs_p": "p.Leu158Pro",
"transcript": "ENST00000923310.1",
"protein_id": "ENSP00000593369.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 181,
"cds_start": 473,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923310.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Leu156Pro",
"transcript": "ENST00000923304.1",
"protein_id": "ENSP00000593363.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 179,
"cds_start": 467,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923304.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.437T>C",
"hgvs_p": "p.Leu146Pro",
"transcript": "ENST00000377493.9",
"protein_id": "ENSP00000466242.1",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 169,
"cds_start": 437,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377493.9"
},
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"pathogenicity_classification_combined": "Pathogenic",
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}
],
"message": null
}