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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: 1-183533792-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=183533792&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 183533792,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001350220.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Pro375Ser",
"transcript": "NM_001375584.1",
"protein_id": "NP_001362513.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1187,
"cds_start": 1123,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000688051.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375584.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Pro375Ser",
"transcript": "ENST00000688051.1",
"protein_id": "ENSP00000510175.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1187,
"cds_start": 1123,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001375584.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688051.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Pro375Ser",
"transcript": "ENST00000507469.5",
"protein_id": "ENSP00000425133.1",
"transcript_support_level": 1,
"aa_start": 375,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1123,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507469.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Pro375Ser",
"transcript": "ENST00000347615.6",
"protein_id": "ENSP00000340766.2",
"transcript_support_level": 1,
"aa_start": 375,
"aa_end": null,
"aa_length": 1137,
"cds_start": 1123,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347615.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Pro375Ser",
"transcript": "ENST00000515829.6",
"protein_id": "ENSP00000421358.2",
"transcript_support_level": 1,
"aa_start": 375,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1123,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515829.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Pro404Ser",
"transcript": "NM_001350220.2",
"protein_id": "NP_001337149.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 1216,
"cds_start": 1210,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350220.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Pro404Ser",
"transcript": "NM_001394133.1",
"protein_id": "NP_001381062.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 1216,
"cds_start": 1210,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394133.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Pro404Ser",
"transcript": "ENST00000685780.1",
"protein_id": "ENSP00000508915.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 1216,
"cds_start": 1210,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685780.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Pro375Ser",
"transcript": "NM_201569.3",
"protein_id": "NP_963863.2",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1123,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201569.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Pro365Ser",
"transcript": "ENST00000920481.1",
"protein_id": "ENSP00000590540.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 1177,
"cds_start": 1093,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920481.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Pro404Ser",
"transcript": "NM_001331007.2",
"protein_id": "NP_001317936.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 1170,
"cds_start": 1210,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331007.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Pro404Ser",
"transcript": "NM_001350221.2",
"protein_id": "NP_001337150.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 1170,
"cds_start": 1210,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350221.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Pro404Ser",
"transcript": "ENST00000367537.7",
"protein_id": "ENSP00000356507.3",
"transcript_support_level": 5,
"aa_start": 404,
"aa_end": null,
"aa_length": 1170,
"cds_start": 1210,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367537.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Pro404Ser",
"transcript": "NM_001394134.1",
"protein_id": "NP_001381063.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 1166,
"cds_start": 1210,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394134.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Pro404Ser",
"transcript": "NM_001394135.1",
"protein_id": "NP_001381064.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 1166,
"cds_start": 1210,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394135.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Pro404Ser",
"transcript": "NM_001394136.1",
"protein_id": "NP_001381065.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 1166,
"cds_start": 1210,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394136.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Pro333Ser",
"transcript": "NM_001174061.2",
"protein_id": "NP_001167532.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 1145,
"cds_start": 997,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174061.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Pro333Ser",
"transcript": "NM_001394137.1",
"protein_id": "NP_001381066.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 1145,
"cds_start": 997,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394137.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Pro333Ser",
"transcript": "ENST00000508461.5",
"protein_id": "ENSP00000426915.1",
"transcript_support_level": 2,
"aa_start": 333,
"aa_end": null,
"aa_length": 1145,
"cds_start": 997,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508461.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Pro375Ser",
"transcript": "NM_001375585.1",
"protein_id": "NP_001362514.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1141,
"cds_start": 1123,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375585.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Pro375Ser",
"transcript": "NM_173156.3",
"protein_id": "NP_775179.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1137,
"cds_start": 1123,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173156.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Pro365Ser",
"transcript": "ENST00000920487.1",
"protein_id": "ENSP00000590546.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 1127,
"cds_start": 1093,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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{
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],
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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
}