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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: 16-89561669-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89561669&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89561669,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000977.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.338A>C",
"hgvs_p": "p.Asn113Thr",
"transcript": "NM_000977.4",
"protein_id": "NP_000968.2",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 211,
"cds_start": 338,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311528.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000977.4"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.338A>C",
"hgvs_p": "p.Asn113Thr",
"transcript": "ENST00000311528.10",
"protein_id": "ENSP00000307889.5",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 211,
"cds_start": 338,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000977.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311528.10"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.338A>C",
"hgvs_p": "p.Asn113Thr",
"transcript": "ENST00000393099.4",
"protein_id": "ENSP00000376811.3",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 211,
"cds_start": 338,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393099.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "n.178A>C",
"hgvs_p": null,
"transcript": "ENST00000562879.5",
"protein_id": "ENSP00000457174.1",
"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": "ENST00000562879.5"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.338A>C",
"hgvs_p": "p.Asn113Thr",
"transcript": "NM_033251.2",
"protein_id": "NP_150254.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 211,
"cds_start": 338,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033251.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.338A>C",
"hgvs_p": "p.Asn113Thr",
"transcript": "ENST00000567815.5",
"protein_id": "ENSP00000455009.1",
"transcript_support_level": 3,
"aa_start": 113,
"aa_end": null,
"aa_length": 211,
"cds_start": 338,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567815.5"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.338A>C",
"hgvs_p": "p.Asn113Thr",
"transcript": "ENST00000902246.1",
"protein_id": "ENSP00000572305.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 211,
"cds_start": 338,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902246.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.338A>C",
"hgvs_p": "p.Asn113Thr",
"transcript": "ENST00000935774.1",
"protein_id": "ENSP00000605833.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 211,
"cds_start": 338,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935774.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.338A>C",
"hgvs_p": "p.Asn113Thr",
"transcript": "ENST00000935779.1",
"protein_id": "ENSP00000605838.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 211,
"cds_start": 338,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935779.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.338A>C",
"hgvs_p": "p.Asn113Thr",
"transcript": "ENST00000971043.1",
"protein_id": "ENSP00000641102.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 211,
"cds_start": 338,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971043.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.338A>C",
"hgvs_p": "p.Asn113Thr",
"transcript": "ENST00000902248.1",
"protein_id": "ENSP00000572307.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 208,
"cds_start": 338,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902248.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.338A>C",
"hgvs_p": "p.Asn113Thr",
"transcript": "ENST00000935773.1",
"protein_id": "ENSP00000605832.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 208,
"cds_start": 338,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935773.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.320A>C",
"hgvs_p": "p.Asn107Thr",
"transcript": "ENST00000902247.1",
"protein_id": "ENSP00000572306.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 205,
"cds_start": 320,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902247.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.320A>C",
"hgvs_p": "p.Asn107Thr",
"transcript": "ENST00000902249.1",
"protein_id": "ENSP00000572308.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 205,
"cds_start": 320,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902249.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.338A>C",
"hgvs_p": "p.Asn113Thr",
"transcript": "ENST00000935776.1",
"protein_id": "ENSP00000605835.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 205,
"cds_start": 338,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935776.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.281A>C",
"hgvs_p": "p.Asn94Thr",
"transcript": "ENST00000935777.1",
"protein_id": "ENSP00000605836.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 192,
"cds_start": 281,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935777.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.338A>C",
"hgvs_p": "p.Asn113Thr",
"transcript": "ENST00000971042.1",
"protein_id": "ENSP00000641101.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 192,
"cds_start": 338,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971042.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.278A>C",
"hgvs_p": "p.Asn93Thr",
"transcript": "ENST00000935775.1",
"protein_id": "ENSP00000605834.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 191,
"cds_start": 278,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935775.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.140A>C",
"hgvs_p": "p.Asn47Thr",
"transcript": "ENST00000935778.1",
"protein_id": "ENSP00000605837.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 145,
"cds_start": 140,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935778.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.338A>C",
"hgvs_p": "p.Asn113Thr",
"transcript": "ENST00000467736.5",
"protein_id": "ENSP00000464612.1",
"transcript_support_level": 3,
"aa_start": 113,
"aa_end": null,
"aa_length": 125,
"cds_start": 338,
"cds_end": null,
"cds_length": 379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467736.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.-125A>C",
"hgvs_p": null,
"transcript": "ENST00000563270.5",
"protein_id": "ENSP00000457686.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 53,
"cds_start": null,
"cds_end": null,
"cds_length": 164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563270.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.267+71A>C",
"hgvs_p": null,
"transcript": "NM_001243131.1",
"protein_id": "NP_001230060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243131.1"
},
{
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{
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"PP3_Strong"
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"verdict": "Likely_pathogenic",
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{
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"verdict": "Likely_pathogenic",
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],
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}