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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: 20-35394112-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35394112&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 35394112,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018244.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "NM_018244.5",
"protein_id": "NP_060714.3",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 299,
"cds_start": 109,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374385.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018244.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000374385.10",
"protein_id": "ENSP00000363506.5",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 299,
"cds_start": 109,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018244.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374385.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "n.103G>T",
"hgvs_p": null,
"transcript": "ENST00000457259.5",
"protein_id": "ENSP00000411024.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000457259.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "n.109G>T",
"hgvs_p": null,
"transcript": "ENST00000491040.5",
"protein_id": "ENSP00000420584.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000491040.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000959003.1",
"protein_id": "ENSP00000629062.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 306,
"cds_start": 109,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959003.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000896131.1",
"protein_id": "ENSP00000566190.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 298,
"cds_start": 109,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896131.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000896134.1",
"protein_id": "ENSP00000566193.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 297,
"cds_start": 109,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896134.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000922688.1",
"protein_id": "ENSP00000592747.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 296,
"cds_start": 109,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922688.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000922690.1",
"protein_id": "ENSP00000592749.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 295,
"cds_start": 109,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922690.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Ala33Ser",
"transcript": "ENST00000959001.1",
"protein_id": "ENSP00000629060.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 295,
"cds_start": 97,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959001.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000922689.1",
"protein_id": "ENSP00000592748.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 292,
"cds_start": 109,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922689.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000896137.1",
"protein_id": "ENSP00000566196.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 281,
"cds_start": 109,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896137.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000896132.1",
"protein_id": "ENSP00000566191.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 277,
"cds_start": 109,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896132.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "NM_199487.3",
"protein_id": "NP_955781.2",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 273,
"cds_start": 109,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199487.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000374384.6",
"protein_id": "ENSP00000363505.2",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 273,
"cds_start": 109,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374384.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000349714.9",
"protein_id": "ENSP00000335364.6",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 272,
"cds_start": 109,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349714.9"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000959002.1",
"protein_id": "ENSP00000629061.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 266,
"cds_start": 109,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959002.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000896133.1",
"protein_id": "ENSP00000566192.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 263,
"cds_start": 109,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896133.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000959004.1",
"protein_id": "ENSP00000629063.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 262,
"cds_start": 109,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959004.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000424405.5",
"protein_id": "ENSP00000399713.1",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 248,
"cds_start": 109,
"cds_end": null,
"cds_length": 748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424405.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000438533.5",
"protein_id": "ENSP00000398531.1",
"transcript_support_level": 3,
"aa_start": 37,
"aa_end": null,
"aa_length": 242,
"cds_start": 109,
"cds_end": null,
"cds_length": 730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438533.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC1",
"gene_hgnc_id": 15891,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000922692.1",
"protein_id": "ENSP00000592751.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 241,
"cds_start": 109,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922692.1"
},
{
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"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}